Orphanet Journal of Rare Diseases

Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria—a mini-review

L. R. Ranganath, Nick Sireau

The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia

Shanghua Fan, Ting Zhao, Liu Sun

The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician-reported disease severity

Anna Cecilia Lawson McLean, Anna Freier, Aaron Lawson McLean, Johannes Kruse, Steffen Rosahl

ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requiring a PASS would be more likely to be reimbursed in Spain

José Luis Poveda, Claudia Gómez, Alicia Gil, Xavier Badia

Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey

Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman, Jessica Pacey

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Ilana M. Miller, Beverly M. Yashar, Maria T. Acosta, Margaret Adam, David R. Adams, Pankaj B. Agrawal, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Laurie C. Findley, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Madison P. Goldrich, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Yong Huang, Alden Huang, Laryssa Huryn, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Lea Latham, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, John MacDowall, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Rachel Mahoney, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martfnez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Paolo Moretti, Deborah Mosbrook-Davis, John J. Mulvihill, Mariko Nakano-Okuno, Avi Nath, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G. S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Bradley Power, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Deepak A. Rao, Anna Raper, Wendy Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Rebecca H. Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie K.-G. Tan, Amelia L. M. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Audrey Thurm, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Jeremy D. Woods, Kim Worley, Shinya Yamamoto, John Yang, Muhammad Yousef, Diane B. Zastrow, Wadih Zein, Zhe Zhang, Chunli Zhao, Stephan Zuchner, Ellen F. Macnamara

Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study

Agnes Kocher, Michael Simon, Andrew A. Dwyer, Catherine Blatter, Jasmina Bogdanovic, Patrizia Künzler-Heule, Peter M. Villiger, Diana Dan, Oliver Distler, Ulrich A. Walker, Dunja Nicca

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants

Rosario Sánchez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero, Roser Torra

Psychiatric disorders, personality and neuropsychological alterations in Erdheim-Chester disease

Charlotte Soumet-Leman, Jean-Yves Rotge, Pauline Delavaud, Zahir Amoura, Fleur Cohen-Aubart, Julien Haroche

French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations

Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin, Annabel Maruani

Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies

Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson

A patient advocating for transparent science in rare disease research

Richard Rui Yang

Correction to: Sharing is caring: a call for a new era of rare disease research and development

Nathan Denton, Andrew E. Mulberg, Monique Molloy, Samantha Charleston, David C. Fajgenbaum, Eric D. Marsh, Paul Howard

Phenylalanine free infant formula in the dietary management of phenylketonuria

Ozlem Yilmaz, Barbara Cochrane, Jo Wildgoose, Alex Pinto, Sharon Evans, Anne Daly, Catherine Ashmore, Anita MacDonald

A survey exploring caregiver burden and health-related quality of life in hereditary transthyretin amyloidosis

Sarah Acaster, Siu Hing Lo, Sandra Nestler-Parr

Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases

Xuefeng Lai, Yuling Jiang, Yue Sun, Zhijun Zhang, Shengfeng Wang

What we don't need to prove but need to do in multidisciplinary treatment and care in Huntington's disease: a position paper

Alzbeta Mühlbӓck, Marleen van Walsem, Martha Nance, Astri Arnesen, Kirsty Page, Alexandra Fisher, Manon van Kampen, Angela Nuzzi, Roy Limpert, Hanne Ludt Fossmo, Travis Cruickshank, Ruth Veenhuizen

Nonhuman primate genetic models for the study of rare diseases

Eric J. Vallender, Charlotte E. Hotchkiss, Anne D. Lewis, Jeffrey Rogers, Joshua A. Stern, Samuel M. Peterson, Betsy Ferguson, Ken Sayers

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Qiao Zeng, Yan-Mei Sang

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review

Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain, Mashael Al-Shafai

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys

C1-inhibitor/C1-inhibitor antibody complexes in acquired angioedema due to C1-inhibitor deficiency

Zsofia Polai, Erika Kajdacsi, Laszlo Cervenak, Zsuzsanna Balla, Szabolcs Benedek, Lilian Varga, Henriette Farkas

Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome

Ying Gao, Li-Li Yang, Yang-Li Dai, Zheng Shen, Qiong Zhou, Chao-Chun Zou

Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK

Sophie Cole, Maria T. Sanchez-Santos, Spyros Kolovos, Muhammad Kassim Javaid, Rafael Pinedo-Villanueva

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile, Mariasanta Napolitano

The Italian registry for patients with Prader–Willi syndrome

Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio

Correction : Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome

Tobias Jürgen Schmidt, Julia Sellin, Gerhard J. Molderings, Rupert Conrad, Martin Mücke

Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis

Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen, Hui Xiong

A conceptual framework to develop a patient-reported experience questionnaire on the cystic fibrosis journey in France: the ExPaParM collaborative study

D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel, Q. Reynaud

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Berenike Leibrock, Erik Landfeldt, Justine Hussong, Tabea Huelle, Hannah Mattheus, Simone Thiele, Maggie C. Walter, Michael Zemlin, Eva Moehler, Ullrich Dillman, Sophia Abner, Marina Flotats-Bastardas

Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus

S. Ingen-Housz-Oro, V. Schmidt, M. M. Ameri, R. Abe, A. Brassard, A. Mostaghimi, A. S. Paller, A. Romano, B. Didona, B. H. Kaffenberger, B. Ben Said, B. Y. H. Thong, B. Ramsay, E. Brezinova, B. Milpied, C. G. Mortz, C. Y. Chu, C. Sotozono, J. Gueudry, D. G. Fortune, S. M. Dridi, D. Tartar, G. Do-Pham, E. Gabison, E. J. Phillips, F. Lewis, C. Salavastru, B. Horvath, J. Dart, J. Setterfield, J. Newman, J. T. Schulz, A. Delcampe, K. Brockow, L. Seminario-Vidal, L. Jörg, M. P. Watson, M. Gonçalo, M. Lucas, M. Torres, M. H. Noe, N. Hama, N. H. Shear, P. O’Reilly, P. Wolkenstein, P. Romanelli, R. P. Dodiuk-Gad, R. G. Micheletti, G. S. Tiplica, R. Sheridan, S. Rauz, S. Ahmad, S. L. Chua, T. H. Flynn, W. Pichler, S. T. Le, E. Maverakis, S. Walsh, L. E. French, M. C. Brüggen

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince, Oliver Semler

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Svein O. Fredwall, Jennifer Linge, Olga de Vries, Olof Dahlqvist Leinhard, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Mikael Petersson, Per Widholm, Grethe Månum, Ravi Savarirayan

Systematic review of health related-quality of life in adults with osteogenesis imperfecta

Darran Mc Donald, Tara Mc Donnell, Julie Martin-Grace, Gerry Mc Manus, Rachel K. Crowley

Overweight and obesity in adult patients with phenylketonuria: a systematic review

Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani, Christel Tran

Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa

Carmen Liy-Wong, Cristina Tarango, Elena Pope, Thomas Coates, Anna L. Bruckner, James A. Feinstein, Agnes Schwieger-Briel, Lynne D. Hubbard, Clapham Jane, Mauricio Torres-Pradilla, Matija Zmazek, Irene Lara-Corrales

Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review

Hugo Fournier, Nicolas Calcagni, Fanny Morice-Picard, Bruno Quintard

Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study

Esther S. Veldhoen, Camiel A. Wijngaarde, Ruben P. A. van Eijk, Fay-Lynn Asselman, Negina Seddiqi, Louise A. M. Otto, Marloes Stam, Inge Cuppen, Renske I. Wadman, Roelie M. Wösten van Asperen, Erik H. J. Hulzebos, Laura P. Verweij van den Oudenrijn, Bart Bartels, Jasmijn Boezer, M. Gaytant, Cornelis K. van der Ent, W. Ludo van der Pol

Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper

N. Zozaya, J. Villaseca, F. Abdalla, A. Ancochea, I. Málaga, M. Trapero-Bertran, N. Martín-Sobrino, O. Delgado, P. Ferré, A. Hidalgo-Vega

The burden of illness in Lennox–Gastaut syndrome: a systematic literature review

Adam Strzelczyk, Sameer M. Zuberi, Pasquale Striano, Felix Rosenow, Susanne Schubert-Bast

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung, Kwok-fai Hui, Ting-hin Hui, Joannie Hui, Chun-hung Ko, Min-chung Kwan, Mei-kwan Anne Kwok, Sung-shing Jeffrey Kwok, Moon-sing Lai, Yau-on Lam, Ching-wan Lam, Ming-chung Lau, Chun-yiu Eric Law, Wing-cheong Lee, Han-chih Hencher Lee, Chin-nam Lee, Kin-hang Leung, Kit-yan Leung, Siu-hung Li, Tsz-ki Jacky Ling, Kam-tim Timothy Liu, Fai-man Lo, Hiu-tung Lui, Ching-on Luk, Ho-ming Luk, Che-kwan Ma, Karen Ma, Kam-hung Ma, Yuen-ni Mew, Alex Mo, Sui-fun Ng, Wing-kit Grace Poon, Richard Rodenburg, Bun Sheng, Jan Smeitink, Cheuk-ling Charing Szeto, Shuk-mui Tai, Choi-ting Alan Tse, Li-yan Lilian Tsung, Ho-ming June Wong, Wing-yin Winnie Wong, Kwok-kui Wong, Suet-na Sheila Wong, Chun-nei Virginia Wong, Wai-shan Sammy Wong, Chi-kin Felix Wong, Shun-ping Wu, Hiu-fung Jerome Wu, Man-mut Yau, Kin-cheong Eric Yau, Wai-lan Yeung, Hon-ming Jonas Yeung, Kin-keung Edwin Yip, Pui-hong Terence Young, Gao Yuan, Yuet-ping Liz Yuen, Chi-lap Yuen, Cheuk-wing Fung

Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P. Burlina

Diagnosing rare diseases and mental well-being: a family’s story

Zheqing Zhang

Well-being in chronic pediatric inflammatory rheumatic diseases: the experience of a French healthcare network

Rita El Haddad, Khalil El Asmar, Chrystelle Hascoët, Linda Rossi-Semerano, Perrine Dusser

Assessing the value of bypassing agent therapy used prophylactic versus on-demand, during immune tolerance induction for treatment of inhibitors: a retrospective chart review

George Morgan, Emily Back, Doug Rosa, Jamie O’Hara, Alan Finnegan

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lianshu Han

Brazilian registry of patients with porphyria: REBRAPPO study

Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz, Acary Souza Bulle Oliveira

Increased incidence of adult-onset Still’s disease in association with COVID-19 vaccination and SARS-CoV-2 infection

Maxime N. Gottschalk, Max Heiland, Susanne Nahles, Robert Preissner, William A. Petri, Stephanie Wendy, Saskia Preissner

Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management

Dhyna Thorel, Saskia Ingen-Housz-Oro, Daniel Benaïm, Vincent Daien, Eric Gabison, Valentine Saunier, Laurence Béral, David Touboul, Dominique Brémond-Gignac, Matthieu Robert, Robin Vasseur, Gérard Royer, Olivier Dereure, Brigitte Milpied, Claire Bernier, Anne Welfringer-Morin, Christine Bodemer, Nadège Cordel, Marie Tauber, Carole Burillon, Marion Servant, Chloe Couret, Bertrand Vabres, Florence Tétart, Myriam Cassagne, Marie-Ange Kuoch, Marc Muraine, Agnès Delcampe, Julie Gueudry

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

Doaa M. A. Ibrahim, Ola S. M. Ali, Hala Nasr, Ekram Fateen, Alice AbdelAleem

Multisystem ALK-positive histiocytosis: a multi-case study and literature review

Wei Liu, Hong-jie Liu, Wei-ya Wang, Yuan Tang, Sha Zhao, Wen-yan Zhang, Jia-qi Yan, Wei-ping Liu

Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove

Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl, Franco Laccone

Exploring disease perception in Behçet’s syndrome: combining a quantitative and a qualitative study based on a narrative medicine approach

D. Marinello, I. Palla, V. Lorenzoni, G. Andreozzi, S. Pirri, S. Ticciati, S. Cannizzo, A. Del Bianco, E. Ferretti, S. Santoni, G. Turchetti, M. Mosca, R. Talarico

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts

A follow-up report on the published paper Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva

Hayley Wallace, Rhonda H. Lee, Edward C. Hsiao

Increasing incidence rate of breast cancer in cystic fibrosis - relationship between pathogenesis, oncogenesis and prediction of the treatment effect in the context of worse clinical outcome and prognosis of cystic fibrosis due to estrogens

Nela Stastna, Kristian Brat, Lukas Homola, Audun Os, Dagmar Brancikova

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini, Francesca Felicia Operto, Alice Pizzolato, Ruggero Di Maulo, Fabiola Martino, Andrea Lodi, Carla Marini

The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis

Aleksandra Kubiliute, Greta Gedvilaite, Alvita Vilkeviciute, Loresa Kriauciuniene, Akvile Bruzaite, Dalia Zaliuniene, Rasa Liutkeviciene

Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States

Nedra Whitehead, Stephen W. Erickson, Bo Cai, Suzanne McDermott, Holly Peay, James F. Howard, Lijing Ouyang

Comprehensive analysis of autophagy-related gene expression profiles identified five gene biomarkers associated with immune infiltration and advanced plaques in carotid atherosclerosis

Chi Ma, Taoyuan Lu, Yanyan He, Dehua Guo, Lin Duan, Rufeng Jia, Dongyang Cai, Tao Gao, Zhongcan Chen, Binghua Xue, Tianxiao Li, Yingkun He

Correction: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan

Yuta Koto, Aya Narita, Shinichi Noto, Midori Ono, Anna Lissa Hamada, Norio Sakai

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda

Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms

Alan L. Shields, Fiona Taylor, Roger E. Lamoureux, Brad Padilla, Kas Severson, Tanya Green, Anthony L. Boral, Cem Akin, Frank Siebenhaar, Brenton Mar

A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D

D. Emmert, N. Szczypien, Tim T. A. Bender, L. Grigull, A. Gass, C. Link, F. Klawonn, R. Conrad, M. Mücke, J. Sellin

Orphan medical devices have come a long way

M. Dooms

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients

Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis, Xue-Jun Li

Participation in a national diagnostic research study: assessing the patient experience

Lindsay E. Rosenfeld, Kimberly LeBlanc, Anna Nagy, Braeden K. Ego, Maria T. Acosta, Margaret Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, Rosario Corona, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Marni Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Page C. Goddard, Rena A. Godfrey, Katie Golden-Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Sarah Hutchison, Wendy Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Brendan H. Lee, Roy Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Rachel Mahoney, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo Moretti, John Mulvihill, Mariko Nakano-Okuno, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G. S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron Quinlan, Deepak A. Rao, Anna Raper, Wendy Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie K.-G. Tan, Amelia L. M. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, Nicole M. Walley, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Zhe Zhang, Stephan Zuchner, Alexa T. McCray

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

Dmitrii Polokhov, Daria Fedorova, Anastasiya Ignatova, Evgeniya Ponomarenko, Elena Rashevskaya, Alexey Martyanov, Nadezhda Podoplelova, Maxim Aleksenko, Irina Mersiyanova, Elena Seregina, Aleksandr Poletaev, Ekaterina Truchina, Elena Raykina, Svetlana Plyasunova, Galina Novichkova, Pavel Zharkov, Mikhail Panteleev

A model for crowdsourcing high-impact research questions for Castleman disease and other rare diseases

Ania Korsunska, Mileva Repasky, Mary Zuccato, David C. Fajgenbaum

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot

Gamma heavy chain disease: a retrospective analysis of 6 cases

Long Chang, Dao-bin Zhou, Xin-xin Cao

Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey

Hanna Skrobanski, Kishan Vyas, Sally Bowditch, Lena Hubig, Edward Dziadulewicz, Louise Fish, Pooja Takhar, Siu Hing Lo

Decentralized clinical trials and rare diseases: a Drug Information Association Innovative Design Scientific Working Group (DIA-IDSWG) perspective

Mercedeh Ghadessi, Junrui Di, Chenkun Wang, Kiichiro Toyoizumi, Nan Shao, Chaoqun Mei, Charmaine Demanuele, Rui (Sammi) Tang, Gianna McMillan, Robert A. Beckman

Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

Marta Talaverón-Rey, Mónica Álvarez-Córdoba, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, David Gómez-Fernández, Ana Romero-González, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Paula Cilleros-Holgado, Diana Reche-López, Rocío Piñero-Pérez, José A. Sánchez-Alcázar

Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings

Emma K. Wiener, James Buchanan, Amanda Krause, Zané Lombard

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

Meike Mund, Natalie Uhlenbusch, Franziska Rillig, Christina Weiler-Normann, Theresia Herget, Christian Kubisch, Bernd Löwe, Christoph Schramm

The clinical characteristics and outcomes of patients with systemic sclerosis with myocardial involvement

Huilin He, Jinzhi Lai, Jiaxin Zhou, Yong Hou, Dong Xu, Mengtao Li, Xiaofeng Zeng

How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis

Julia Frost, Abi Hall, Emily Taylor, Sarah Lines, Jessica Mandizha, Catherine Pope

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

“I just wanted to speak to someone- and there was no one…”: using Burden of Treatment Theory to understand the impact of a novel ATMP on early recipients

Ian Litchfield, Melanie J. Calvert, Francesca Kinsella, Nisha Sungum, Olalekan L. Aiyegbusi

Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature

Samaneh Rokhgireh, Abolfazl Mehdizadehkashi, Shahla Chaichian, Mohammad Faranoush, Fardis Salmanpour, Noosha Samieefar, Roya Derakhshan

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari

Randomized controlled trial data for successful new drug application for rare diseases in the United States

Yosuke Kubota, Mamoru Narukawa

Toward patient-centered treatment goals for duchenne muscular dystrophy: insights from the “Your Voice” study

Carolyn E. Schwartz, Skyler Jackson, James Valentine, Natalie Miller, Linda Lowes, Danielle Edwards, Christine McSherry, Dimitrios Savva, Alex Lowe, Jordan McSherry, Patti Engel

Association between one-session bilateral whole-lung lavage and periprocedural complications in patients with pulmonary alveolar proteinosis: a retrospective cohort study

Xiaohan Xu, Huanrong Qiu, Fei Chen, Yuelun Zhang, Xinlun Tian, Yongjian Liu, Ping Wang, Bo Zhu, Yuguang Huang

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

Transition for adolescents with a rare disease: results of a nationwide German project

Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults

Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Denise N. Slenter, Irene M. G. M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K. M. Steinbusch

The spectrum of imaging manifestations of Gorham–Stout disease: a novel dynamic contrast-enhanced MR lymphangiography

Yuna Lee, Seunghyun Lee, Saebeom Hur, Yun Soo Jeong, Dong In Suh, Jangsup Moon, Man Jin Kim, Young Hun Choi, Jung-Eun Cheon

Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus

Victoria Antoniadou, Adamos Hadjipanayis

Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin A. Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, Ulrich Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk

Esophageal papillomatosis: an exceedingly rare disease

Dandan Li, Changfeng Li, Yuxing Yan, Minya Liu

French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes

Matthieu Groh, Julien Rohmer, Nicolas Etienne, Wadih Abou Chahla, Antoine Baudet, Aurélie Chan Hew Wai, Cécile Chenivesse, Irena Clisson Rusek, Vincent Cottin, Matthieu Decamp, Pascal De Groote, Fanny Delahousse, Nicolas Duployez, Stanislas Faguer, Frédéric Gottrand, Florent Huang, Thierry Leblanc, Antoine Magnan, Thierry Martin, Geoffrey Mortuaire, Antoine Néel, Luc Paris, Arnaud Petit, Julien Rossignol, Nicolas Schleinitz, Juliette Soret-Dulphy, Delphine Staumont-Salle, Benjamin Terrier, Louis Terriou, Jean-François Viallard, Guillaume Lefèvre, Jean-Emmanuel Kahn

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients

Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian

Objective measurement of oral function in adults with spinal muscular atrophy

T. Kruse, S. Shamai, D. Leflerovà, B. Wirth, R. Heller, N. Schloss, H. C. Lehmann, S. Brakemeier, T. Hagenacker, B. Braumann, G. Wunderlich

Pediatric joint hypermobility: a diagnostic framework and narrative review

Louise Jane Tofts, Jane Simmonds, Sarah B. Schwartz, Roberto M. Richheimer, Constance O’Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T. Tinkle, Antonie D. Kline, Alan J. Hakim, Marion A. J. van Rossum, Verity Pacey

Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia

Talita Lemos Neves Barreto, Roberto José de Carvalho Filho, David Carlos Shigueoka, Fernando Luiz Affonso Fonseca, Ariel Cordeiro Ferreira, Cristiane Kochi, Carolina Sanchez Aranda, Roseli Oselka Saccardo Sarni

A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance

Isabel C. Hageman, Iris A.L.M. van Rooij, Ivo de Blaauw, Misel Trajanovska, Sebastian K. King

Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

Hongdan Wang, Yue Gao, Litao Qin, Mengting Zhang, Weili Shi, Zhanqi Feng, Liangjie Guo, Bofeng Zhu, Shixiu Liao

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft

Practices and challenges for hemophilia management under resource constraints in Thailand

Chatphatai Moonla, Darintr Sosothikul, Bunchoo Pongtanakul, Bundarika Suwanawiboon, Chanchai Traivaree, Rungrote Natesirinilkul, Nongnuch Sirachainan, Pantep Angchaisuksiri

The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva

Zhengqin Ye, Siyi Wang, Chang Shan, Qi Zhu, Ying Xue, Keqin Zhang

Investigating significant health trends in growth hormone treatments registry: rationale, aims and design of a nationwide prospective registry (study protocol)

Dirk Schnabel, Ilonka Kreitschmann-Andermahr, Christian J. Strasburger, David Pittrow, Christine Pausch, Joachim Woelfle

IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes

Sydney A. Martinez, Scott C. Fligor, Savas Tsikis, Meagan Short, Katie E. Corcoran, Amy Rogers, Kathleen M. Gura, Mark Puder

Trend of clinical trials of new drugs for rare diseases in China in recent 10 years

Ai Peng, Xue Fan, Linling Zou, Huan Chen, Jin Xiang

Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome

Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H. Ryu, Xiaowen Hu

The value of 18F-FDG PET/CT in the systemic evaluation of patients with Rosai–Dorfman disease: a retrospective study and literature review

Xinyu Lu, Rongxi Wang, Zhaohui Zhu

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Ilaria Maccora, Valerio Maniscalco, Silvia Campani, Simona Carrera, Giulia Abbati, Edoardo Marrani, Maria Vincenza Mastrolia, Gabriele Simonini

Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients’ experiences and perceptions

Gry Velvin, Heidi Johansen, Amy Østertun-Geirdal, Trine Bathen

The experience of living with Niemann–Pick type C: a patient and caregiver perspective

Emma Golden, Raquel van Gool, Mariesa Cay, Benjamin Goodlett, Amanda Cao, Walla Al-Hertani, Jaymin Upadhyay

Oral antibiotic prophylaxis for infection in patients with vascular anomalies receiving sirolimus treatment: a multicenter retrospective study

Tong Qiu, Yanan Li, Xue Gong, Jiangyuan Zhou, Kaiying Yang, Xuepeng Zhang, Zixin Zhang, Yuru Lan, Fan Hu, Qiang Peng, Yongbo Zhang, Feiteng Kong, Siyuan Chen, Yi Ji

Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers

Sebastian Zimny, Hélène Bourhis, Sabine Weber, Florian Paul Reiter, Simon Hohenester, Eduard Kraft, Isabelle Mohr, Uta Merle, Karl Heinz Weiss, Gerald Denk

Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis

Susanne Wehrli, Marianne Rohrbach, Markus Andreas Landolt

Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies

Jinrong Liu, Xiaomin Duan, Jie Yin, Haiming Yang, Ruxuan He, Shunying Zhao

Hypertension, antihypertensive drugs, and age at onset of Huntington’s disease

Yahui Zhu, Mao Li, Jiongming Bai, Haoran Wang, Xusheng Huang

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao, Wenjuan Qiu

The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges

Morey W Haymond, David Araújo-Vilar, John Balser, James H Lewis, Ruth Louzado, Carla Musso, Julia von Schnurbein, Martin Wabitsch

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma

Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting

Sameen Haque, Karen Crawley, Rupendra Shrestha, Deborah Schofield, Carolyn M. Sue

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

Åsa Lina M. Jönsson, Ole Hilberg, Ulf Simonsen, Jane Hvarregaard Christensen, Elisabeth Bendstrup

Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling

Yin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, Laura A. Jenny, Rin Khang, Go Hun Seo, Hane Lee, Kuan-Jen Chen, Wei-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

Clinical and genetic spectrum of GSD type 6 in Korea

Jong Woo Hahn, Heerah Lee, Moon Woo Seong, Gyeong Hoon Kang, Jin Soo Moon, Jae Sung Ko

The epidemiology, clinical presentation and treatment outcomes in CNS actinomycosis: a systematic review of reported cases

Durga Shankar Meena, Deepak Kumar, Mukesh Sharma, Manika Malik, Akshatha Ravindra, N. Santhanam, Gopal Krishana Bohra, Mahendra Kumar Garg

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman

The challenges of classical galactosemia: HRQoL in pediatric and adult patients

Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch

Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study

Jana Willems, Isabella Bablok, Erik Farin-Glattacker, Thorsten Langer

Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms

Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen, Canquan Zhou

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller, Alan H. Beggs

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Nickolas J. Nahm, W. G. Stuart Mackenzie, William G. Mackenzie, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria Elena Serna, Cory J. Smid, Julie Hoover-Fong, Michael B. Bober

Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review

Matthew Gittus, Jiehan Chong, Anthea Sutton, Albert C. M. Ong, James Fotheringham

Pharmacists are initiators in palliative care for patients with rare diseases

M. Dooms

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France

Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot, François Labarthe

General public’s understanding of rare diseases and their opinions on medical resource allocation in Japan: a cross-sectional study

Haruka Nakada, Saori Watanabe, Kyoko Takashima, Shohei Suzuki, Yuki Kawamura, Yutori Takai, Kenji Matsui, Keiichiro Yamamoto

Patients, payers and developers of Orphan Medicinal Products: lessons learned from 10 years’ multi-stakeholder dialogue on improving access in Europe via MoCA

Maria Cavaller-Bellaubi, Wills Hughes-Wilson, Šárka Kubinová, Marc Van de Casteele, Evert Jan Van Lente, Emanuele Degortes, Johan Pontén, Hans-Georg Eichler, Yann Le Cam, Simone Boselli, Anna Bucsics

Expansion of India’s national child healthcare programme, Rashtriya Bal Swasthya Karyakram (RBSK), for rare disease management : a health policy perspective

Pragya Chaube, Arun K. Singh, Mohua Chakraborty Choudhury

Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study

Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch, Mona Mainert, Franziska Helm, Sabine von Wegerer, David Pittrow, Jorge Frank, Ulrich Stölzel, Rajan Somasundaram

Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study

Heidi Arponen, Svetlana Vakkilainen, Jaana Rautava, Outi Mäkitie

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes

Yongchao Guo, Jianhui Jiang, Zhongyao Xu

Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson

Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients

Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, Nicola Santoro, Paola Giordano, Beatrice Filippini, Simona Rinieri, Giovanna Russo, Katia Girardi, Antonio Ruggiero, Eulalia Galea, Roberto Antonucci, Nicola Tovaglieri, Fulvio Porta, Immacolata Tartaglione, Fiorina Giona, Franca Fagioli, Alberto Burlina, Rosamaria Mura, Bambina Russo, Assunta Tornesello, Giuseppe Menna, Delia Russo, Maurizio Caniglia, Sergio Schettini, Daniela Onofrillo, Saverio Ladogana, Adele Civino

SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P. Comi, Giovanna Mantovani, Alessio Di Fonzo

Tonsillectomy reduces the family impact of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and improves health-related quality of life in affected children

Karin Rydenman, Carina Sparud-Lundin, Anna Karlsson-Bengtsson, Stefan Berg, Anders Fasth, Per Wekell

Impact of the COVID-19 pandemic on health care and daily life of patients with rare diseases from the perspective of patient organizations – a qualitative interview study

David Zybarth, Maja Brandt, Christine Mundlos, Laura Inhestern

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh

Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development

Siobhan Connor-Ahmad, Jorrit Tjeertes, Michael Chladek, Louise Newton, Tara Symonds, Susanne Clinch, Brenda Vincenzi, Fiona McDougall

The evolution of the mitochondrial disease diagnostic odyssey

John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

Karen M Bailey, Navdeep Sahota, Uyen To, Peter Hedera

Estimated costs for Duchenne muscular dystrophy care in Brazil

Nayê Balzan Schneider, Erica Caetano Roos, Ana Lúcia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamiê de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges, Carisi Anne Polanczyk

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, Zbigniew K. Wszolek

Burden of adult neurofibromatosis 1 questionnaire: translation and psychometric properties of the Persian version

Reza Jahanshahi, Zahra Yasaghi, Fatemeh Mirzaei, Shohreh Ghasemi, Akram Sanagoo, Leila Jouybari, Samira Foji

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to “A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis”)

Craig B. Langman

A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act

Lewis J. Fermaglich, Kathleen L. Miller

Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1

Ana M. Cieza Rivera, Tania Fernández-Villa, Vicente Martín, Isis Atallah

Pituitary abscess: a case report and systematic review of 488 cases

Felicity Stringer, Yi Chao Foong, Alanna Tan, Sarah Hayman, Jeffrey D. Zajac, Mathis Grossmann, Justin Ng Yau Zane, Jasmine Zhu, Sujith Ayyappan

Real-world evidence in achondroplasia: considerations for a standardized data set

Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

Post-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome

Miriam Larouche, Diane Brisson, Marie-Claude Morissette, Daniel Gaudet

Quality of life and depression in Wilson’s disease: a large prospective cross-sectional study

Kevin Chevalier, Djamila Rahli, Louise de Veyrac, Jessica Guillaume, Michaël Alexandre Obadia, Aurélia Poujois

Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey

Milada Mahic, Ali Bozorg, Jonathan DeCourcy, Keisha Golden, Gregor Gibson, Christian Taylor, Anna Scowcroft

Correction to: identification and in silico analysis of a spectrum of SLC4A11 variations in indian familial and sporadic cases of congenital hereditary endothelial dystrophy

Mohd Salman, Anshuman Verma, Sunita Chaurasia, Deeksha Prasad, Chitra Kannabiran, Vivek Singh, Muralidhar Ramappa

Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders

Mathieu Fiore, Janine-Sophie Giraudet, Marie-Christine Alessi, Céline Falaise, Dominique Desprez, Roseline d’Oiron, Sophie Voisin, Marie-Françoise Hurtaud, Hélène Boutroux, Paul Saultier, Cécile Lavenu-Bombled, Gilles Bagou, Xavier Dubucs, Anthony Chauvin, Christophe Leroy, Francine Meckert, François Kerbaul, Nicolas Giraud, Ambra Pühler, Ana Rath

Eculizumab for paroxysmal nocturnal haemoglobinuria: catastrophic health expenditure in Nepalese patients

Sugat Adhikari, Surendra Sapkota, Suraj Shrestha, Kshitiz Karki, Anjan Shrestha

A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland

Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli, Engin Beydogan

Single-cell sequencing analysis of peripheral blood in patients with moyamoya disease

Qikai Tang, Wenjun Li, Jie Huang, Yuting Wu, Chenfeng Ma, Yiming Tu, Qianmiao Zhu, Jiacheng Lu, Jiaheng Xie, Yu Liu, Xiaoman Mao, Wei Wu

Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study

Laetitia Paermentier, Aline Cano, Brigitte Chabrol, Arnaud Roy

Overview of patients’ cohorts in the French National rare disease registry

Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci, Anne-Sophie Jannot

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli

Siblings with Gorlin–Goltz syndrome associated with cardiac tumors: a case report and review of literature

Paula I. Wilke, Daniel Biermann, Maria Grafmann, Rainer Kozlik-Feldmann, Dzhoy Papingi, Jörg S. Sachweh, Fridrike Stute, Jakob Olfe

Out-of-pocket health expenditures in patients living with ınborn errors of metabolism

Mehmet Gündüz, Yasemin Yüksel Güdek, Çiğdem Seher Kasapkara

Probability of sporadic lymphangioleiomyomatosis in women presenting with spontaneous pneumothorax

Audrey Suter, Marie-Eve Müller, Cécile Daccord, Patrick Taffé, Romain Lazor

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study

Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq

Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey

Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq

Treatment of relapsing multiple sclerosis in Hungary – consensus recommendation from the Hungarian neuroimmunology society

Cecilia Rajda, Csilla Rózsa, Andrea Mike, Gábor Lovas, Zsolt Mezei, Gábor Jakab, Péter Ács, Gábor Rum, Magdolna Simó, Zita Jobbágy, Zita Bíró, Anita Trauninger, Piroska Imre, Klotild Mátyás, István Deme, Zsolt Illés, Tunde Csepany

Subclinical microvascular changes in ANCA-vasculitides: the role of optical coherence tomography angiography and nailfold capillaroscopy in the detection of disease-related damage

P Triggianese, A D’Antonio, C Nesi, B Kroegler, M Di Marino, P Conigliaro, S Modica, E Greco, C Nucci, A Bergamini, MS Chimenti, M Cesareo

Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor

Sigrun Hope, Terje Nærland, Svein Olav Kolset, Thor Ueland, Ole A. Andreassen, Marianne Nordstrøm

Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients

Yan Lok Tiffany Lam, Bun Sheng, Hoi Ming Kwok, Ellen Lok Man Yu, Ka Fai Johnny Ma

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

Hongrui Chen, Bin Sun, Wei Gao, Yajing Qiu, Chen Hua, Xiaoxi Lin

Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli

Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project

Y. Vyzhga, V. Hentgen, R. Caorsi, H. Wittkowski, M. Hofer, N. Ruperto, E. Lainka, K. Theodoropoulou, D. Foell, E. Mosci, M. Gattorno

Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Amanda S. Wendt, Joaquin Brintrup, Jillian L. Waid, Abdul Kader, Nathalie J. Lambrecht, Sabine Gabrysch

Exploring the feasibility of using the ICER Evidence Rating Matrix for Comparative Clinical Effectiveness in assessing treatment benefit and certainty in the clinical evidence on orphan therapies for paediatric indications

Jaro Wex, Monika Szkultecka-Debek, Mariola Drozd, Sarah King, Natasa Zibelnik

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano

A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative

Tanya Collin-Histed, Madeline Stoodley, Kathleen Beusterien, Deborah Elstein, Dena H. Jaffe, Shoshana Revel-Vilk, Elin Haf Davies

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino, Andrea Pession

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens

Low skeletal muscle mass as an early sign in children with fabry disease

Zhihong Lu, Guoping Huang, Ling Yu, Yan Wang, Langping Gao, Li Lin, Lidan Hu, Jianhua Mao

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene

Kai-Jie Wang, Jue-Xue Wang, Jin-Da Wang, Meng Li, Jing-Shang Zhang, Ying-Yan Mao, Xiu-Hua Wan

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

New retinal findings in NLRP3-associated autoinflammatory disease

Zhangwanyu Wei, Zhikun Yang, Donghui Li, Xiao Zhang, Bing Li, Xufeng Zhao, Wenyu Yan, Bingxuan Wu, Na Wu, Xuqian Wang, Weihong Yu, Min Shen

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron

PAI1 inhibits the pathogenesis of primary focal hyperhidrosis by targeting CHRNA1

Jian-Feng Chen, Min Lin, Xu Li, Jian-Bo Lin

Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO)

A. T. Leerling, G. Clunie, E. Koutrouba, O. M. Dekkers, N. M. Appelman-Dijkstra, E. M. Winter

Citrulline in the management of patients with urea cycle disorders

Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay

Ground-glass opacity score predicts the prognosis of anti-MDA5 positive dermatomyositis: a single-centre cohort study

Lijun Liu, Yinli Zhang, Cong Wang, Wenjuan Guan, Xin Zhang, Lei Zhang, Yujie He, Wenlu Hu, Shengyun Liu, Tianfang Li

Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study

Chae Sung Lee, Mina Tsurumi, Yoshikatsu Eto

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans

Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database

Jeanne M. Pimenta, Melita Irving, Moira Cheung, Louise Mazzeo, Sarah Landis, Swati Mukherjee

Gaps in the evidence underpinning high-risk medical devices in Europe at market entry, and potential solutions

Frank Hulstaert, Céline Pouppez, Célia Primus-de Jong, Kathleen Harkin, Mattias Neyt

What is the awareness of rare diseases among medical students? A survey in Bulgaria

Eleonora Hristova-Atanasova, Georgi Iskrov, Ivan Atanasov, Atilla Genc, Rumen Stefanov

Perioperative opioid-minimization approach as a useful protocol in the management of patients with Ehlers–Danlos syndrome-hypermobility type, craniocervical instability and severe chronic pain who are to undergo occipito-cervical fixation

Carlos Ramírez-Paesano, Claudia Rodiera Clarens, Allan Sharp Segovia, Alan Coila Bustinza, Josep Rodiera Olive, Albert Juanola Galceran

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu

Current state of rare disease registries and databases in Australia: a scoping review

Rasa Ruseckaite, Chethana Mudunna, Marisa Caruso, Falak Helwani, Nicole Millis, Paul Lacaze, Susannah Ahern

Sexual function assessment in patients with SAPHO syndrome: a cross-sectional study

Chen Li, Haixu Jiang, Yunan Zhang, Guangrui Huang

Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction

Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke M. C. van Roon-Mom, Susanne T. de Bot, Katherine J. Wolstencroft, Eleni Mina

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

Analysis of Incentive Policies and Initiatives on Orphan Drug Development in China: Challenges, Reforms and Implications

Zhiyao Zhao, Zhongyang Pei, Anxia Hu, Yuhui Zhang, Jing Chen

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH

Hong Chen, Suping Zhang, Yunteng Sun, Jiao Chen, Ke Yuan, Ying Zhang, Xiaohong Yang, Xiangquan Lin, Ruimin Chen

Total choline intake and working memory performance in adults with phenylketonuria

Meriah S. Schoen, Kelly M. Boland, Shawn E. Christ, Xiangqin Cui, Usha Ramakrishnan, Thomas R. Ziegler, Jessica A. Alvarez, Rani H. Singh

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Vittoria Murro, Sandro Banfi, Francesco Testa, Giancarlo Iarossi, Benedetto Falsini, Andrea Sodi, Sabrina Signorini, Achille Iolascon, Roberta Russo, Dario Pasquale Mucciolo, Roberto Caputo, Giacomo Maria Bacci, Sara Bargiacchi, Simona Turco, Stefania Fortini, Francesca Simonelli

The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review

Margaux Poleur, Theodora Markati, Laurent Servais

Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation

Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu, Michael C. Kruer

Barriers to prophylactic treatment among patients with haemophilia A in Shandong Province, China: a qualitative study

Ziyu Liu, Junchao Feng, Yunhai Fang, Yan Cheng, Shunping Li

The impact of bleeding event frequency on health-related quality of life and work productivity outcomes in a European cohort of adults with haemophilia A: insights from the CHESS II study

Lisa Young, Yong Chen, José Alvir, Tom Burke, Enrico Ferri Grazzi, Ian Winburn

China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases

Beibei Zhao, Peichun Chen, Xuhui She, Xiuru Chen, Zhou Ni, Duo Zhou, Zinan Yu, Chang Liu, Xinwen Huang

How to START? Four pillars to optimally begin your orphan drug development

Anneliene Hechtelt Jonker, Liliana Batista, Michela Gabaldo, Virginie Hivert, Diego Ardigo

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

Treatment regimens, patient reported outcomes and health-related quality of life in children with moderate and severe hemophilia A in China: using real-world data

Luying Zhang, Peng Zhang, Wen Chen

Schooling experiences in children with long-gap esophageal atresia compared with children with esophageal atresia and primary anastomosis: a Swedish study

M. Dellenmark-Blom, C. Reilly, E. Öst, S. Örnö Ax, J. F. Svensson, A.-M. Kassa, L. Jönsson, K. Abrahamsson, V. Gatzinsky, AM. Tollne, E. Omling, P. Stenström, H. Engstrand Lilja

Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Hongjie Yu, Changrong Li, Huixiao Wu, Weibo Xia, Yanzhou Wang, Jiajun Zhao, Chao Xu

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study

Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Eunice Jeffs

Epidemiological research on rare diseases using large-scale online search queries and reported case data

Lei Zhang, Ye Jin, Jiayu Li, Zhiyu He, Dingding Zhang, Min Zhang, Shuyang Zhang

The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia

Sofie Örnö Ax, Michaela Dellenmark-Blom, Kate Abrahamsson, Linus Jönsson, Vladimir Gatzinsky

Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study

Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard, Odile Boespflug-Tanguy

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review

Amaury Loret, Claire Jacob, Saloua Mammou, Adrien Bigot, Hélène Blasco, Alexandra Audemard-Verger, Ida VD Schwartz, Denis Mulleman, François Maillot

Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study

Weida Liu, Peng Liu, Dan Guo, Ye Jin, Kun Zhao, Jiayin Zheng, Kexin Li, Linkang Li, Shuyang Zhang

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

Living with a rare disease - experiences and needs in pediatric patients and their parents

Stefanie Witt, Katharina Schuett, Silke Wiegand-Grefe, Johannes Boettcher, Julia Quitmann

The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO

Robert A. Stockley, Anita Pye, Joshua De Soyza, Alice M. Turner, Marc Miravitlles, María Torres-Duran, Hanan Tanash, Carlota Rodríguez-García, José Luis López-Campos, Jan Chlumsky, Catarina Guimaraes, Juan Luis Rodríguez-Hermosa, Angelo Corsico, Cristina Martinez-González, José María Hernández-Pérez, Ana Bustamante, David G. Parr, Francisco Casas-Maldonado, Ana Hecimovic, Wim Janssens, Beatriz Lara, Miriam Barrecheguren, Cruz González, Jan Stolk, Christian F. Clarenbach

Patient-reported outcomes in Gaucher’s disease: a systematic review

Junchao Feng, Zhongchun Gao, Zhao Shi, Yue Wang, Shunping Li

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

Enrique Casado, Carlos Gómez-Alonso, Guillem Pintos-Morell, Rosa Bou-Torrent, Ana Coral Barreda-Bonis, José Vicente Torregrosa, José Jesús Broseta-Monzó, Pedro Arango-Sancho, Sara Chocrón-de-Benzaquen, Yoko Olmedilla-Ishishi, Begoña Soler-López

Exploring the methylation status of CFTR and PKIA genes as potential biomarkers for lung adenocarcinoma

Bowen Xu, Jingang Zhang, Weigang Chen, Wei Cai

Congenital disorders of glycosylation: narration of a story through its patents

Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis

A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel

Nigel Armstrong, Andrew Olaye, Caro Noake, Francis Pang

Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning

Malte Ollenschläger, Patrick Höfner, Martin Ullrich, Felix Kluge, Teresa Greinwalder, Evelyn Loris, Martin Regensburger, Bjoern M. Eskofier, Jürgen Winkler, Heiko Gaßner

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review

Zhendong Wang, Zhenfu Sun, Yujie Diao, Zhouyang Wang, Xiangdong Yang, Bei Jiang, Yumei Wu, Guangyi Liu

Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China

Yanyu Duan, Jianxian Xiong, Zhenghong Lai, Yiming Zhong, Chengnan Tian, Zhiming Du, Zhifang Luo, Junjian Yu, Wentong Li, Weichang Xu, Yabing Wang, Ting Ding, Xuehong Zhong, Mengmeng Pan, Yu Qiu, Xuemei Lan, Taihua Chen, Peijun Li, Kang Liu, Meng Gao, Yanqiu Hu, Ziyou Liu

Economic burden of adult patients with β-thalassaemia major in mainland China

Xuemei Zhen, Jing Ming, Runqi Zhang, Shuo Zhang, Jing Xie, Baoguo Liu, Zijing Wang, Xiaojie Sun, Lizheng Shi

Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective

Karl Gisslander, Aladdin J Mohammad, Augusto Vaglio, Mark A Little

Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review

Jessica Z. Song, Dorothy Luong, Estée C. H. Feldman, Susan Tran, Laure Perrier, Kathleen Eubanks, Mark Bayley, Monika Kastner, Maxwell Slepian, Sarah E. P. Munce

Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca

E. Cisneros-Barroso, F. Gorram, M. A. Ribot-Sansó, F. Alarcon, G. Nuel, J. González-Moreno, A. Rodríguez, J. Hernandez-Rodriguez, E. Amengual-Cladera, I. Martínez-López, T. Ripoll-Vera, I. Losada-López, D. Heine-Suñer, V. Plante-Bordeneuve

Screening for late-onset Pompe disease in Internal Medicine departments in Spain

Mónica López-Rodríguez, Miguel Angel Torralba-Cabeza, Iván Pérez de Pedro, Alberto Rivera, Roi Suarez Gil, Ana Gómez-Belda, Jose Luis Patier de la Peña, Alberto de los Santos Moreno, Albert Selva-O’Callaghan, Igor Gómez Gárate, Andrés González García, Roberto Hurtado, Pablo Tutor de Ureta, Miguel Ángel Barba-Romero, José C. Milisenda, Josep M. Grau-Junyent

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell

Prevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study

Daniel G. Whitney, Erin E. Neil Knierbein, Alecia K. Daunter

Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases

Cássia Cunico, Geison Vicente, Silvana Nair Leite

Subjective versus objective sleep in men with Klinefelter syndrome

K. W. Fjermestad, R. R. Finnbakk, A.-K. Solbakk, C. H. Gravholt, R. J. Huster

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations

Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin Ma

Composite endpoints, including patient reported outcomes, in rare diseases

Johan Verbeeck, Maya Dirani, Johann W. Bauer, Ralf-Dieter Hilgers, Geert Molenberghs, Rima Nabbout

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data

Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W. Vander Kooi, Matthew S. Gentry, Francesca Bisulli

Leigh syndrome global patient registry: uniting patients and researchers worldwide

Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi, Saima Kayani

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black

HDAC5 inhibition attenuates ventricular remodeling and cardiac dysfunction

Chenxi Zhu, Zhehao Piao, Li Jin

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

Monica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin, Cèline Angin, Francis Agius, Clara Cavero-Carbonell, Virginia Corrochano, Katerina Hanusova, Kurt Kirch, Deborah Lambert, Caterina Lucano, Sylvie Maiella, Monica Panzaru, Cristina Rusu, Stefanie Weber, Oscar Zurriaga, Miroslav Zvolsky, Ana Rath

Consensus-based guidelines for the provision of palliative and end-of-life care for people living with epidermolysis bullosa

Mark P. Popenhagen, Paola Genovese, Mo Blishen, Dilini Rajapakse, Anja Diem, Alex King, Jennifer Chan, Eduard Pellicer Arasa, Simone Baird, Anna Carolina Ferreira da Rocha, Gideon Stitt, Kellie Badger, Vlasta Zmazek, Faiza Ambreen, Caroline Mackenzie, Harper Price, Toni Roberts, Zena Moore, Declan Patton, Paul Murphy, Kattya Mayre-Chilton

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Carolyn E. Pizoli, Edward C. Smith, Queenie K.-G. Tan, Vandana Shashi

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Yuki Sasaki, Kosuke Ishikawa, Kanako C. Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasaki

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan

Together4RD position statement on collaboration between European reference networks and industry

Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout, Clara Romero, Franz Schaefer, Sheela Upadhyaya, Alexis Arzimanoglou, Hélène Dollfus, Dorothée Leroux, Maurizio Scarpa, Franz Schaefer, Alain Verloes, Matt Bolz-Johnson, Daria Julkowska, Ana Rath, Victoria Hedley, Anton Ussi, Yanis Mimouni, Rima Nabbout, Morgane Cuisenier, Anne-Sophie Chalandon, Toon Digneffe, Gabriella Almberg, Matteo Scarabelli, Leander Vranken

The metabolomic plasma profile of patients with Duchenne muscular dystrophy: providing new evidence for its pathogenesis

Huayan Xu, Xiaotang Cai, Ke Xu, Qihong Wu, Bei Xu

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI

Sarah Jesse, Hans-Peter Müller, Hans-Jürgen Huppertz, Stephanie Andres, Albert C. Ludolph, Michael Schön, Tobias M. Boeckers, Jan Kassubek

Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease

Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao

“The chameleon among diseases” - an explorative view of sarcoidosis and identification of the consequences for affected patients and relatives using qualitative interviews

Charlotte Hilker, Johanna Weis, Stefanie Ziehfreund, Elizabeth V. Arkema, Tilo Biedermann, Alexander Zink

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Suzanne M. Nevin, Brittany C. McGill, Lauren Kelada, Gail Hilton, Megan Maack, Kristina L. Elvidge, Michelle A. Farrar, Gareth Baynam, Naomi T. Katz, Leigh Donovan, Sarah Grattan, Christina Signorelli, Kaustuv Bhattacharya, Kenneth Nunn, Claire E. Wakefield

Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay

Jing Wang, Wei Wang, Wenbo Zhou, Yan Zhou, Linna Zhou, Xinyue Wang, Bin Yu, Bin Zhang

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study

Yasas D. Kolambage, Yasaswi N. Walpita, Udari A. Liyanage, Buddika M.K.D.R. Dayaratne, Vajira H.W. Dissanayake

Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States

Amanda Wilson, Alexandra Chiorean, Mario Aguiar, Davorka Sekulic, Patrick Pavlick, Neha Shah, Lisa Sniderman King, Marie Génin, Mélissa Rollot, Margot Blanchon, Simon Gosset, Martin Montmerle, Cliona Molony, Alexandra Dumitriu

Prevalence of propionic acidemia in China

Yixing Zhang, Chuwen Peng, Lifang Wang, Sitong Chen, Junwei Wang, Ziheng Tian, Chuangong Wang, Xiaoxin Chen, Suhong Zhu, Guo-Fang Zhang, You Wang

Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism

Yijie Qiu, Mingchuan Su, Xina Xiao, Dingzi Zhou, Linshen Xie

Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations

Lucia Masárová, Roman Panovský, Martin Pešl, Mary Luz Mojica-Pisciotti, Tomáš Holeček, Vladimír Kincl, Lenka Juříková, Jan Máchal, Lukáš Opatřil, Věra Feitová

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang

Data saves lives: optimising routinely collected clinical data for rare disease research

Ameenat Lola Solebo, Pirro Hysi, Lisanne Andra Horvat-Gitsels, Jugnoo Sangeeta Rahi

Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey

Lucia Brodosi, Michele Stecchi, Dorina Mita, Francesca Marchignoli, Valeria Guarneri, Giulio Agnelli, Valentino Osti, Federica Perazza, Federica Sacilotto, Andrea Pession, Loris Pironi

Financing repurposed drugs for rare diseases: a case study of Unravel Biosciences

Bechara Abouarab, Christian Bazarian, Zied Ben Chaouch, Andrew W. Lo, Guillermo Mourenza Gonzalez, Richard Novak, Frederic Vigneault

Gastrointestinal involvement in Klippel-Trénaunay syndrome: pathophysiology, evaluation, and management

Huaijie Wang, Weilong Lin, Chong Xie, Weijia Yang, Jinbang Zhou, Zhengtuan Guo

Tafamidis decreased cardiac amyloidosis deposition in patients with Ala97Ser hereditary transthyretin cardiomyopathy: a 12-month follow-up cohort study

Cheng-Hsuan Tsai, Chi-Chao Chao, Sung-Tsang Hsieh, An-Li Yu, Yuan-Kun (Aden) Wu, Mei-Fang Cheng, Ming-Jen Lee, Chia-Hung Chou, Chia-Tung Shun, Hsueh-Wen Hsueh, Jimmy Jyh-Ming Juang, Ping-Huei Tseng, Mao-Yuan Su, Yen-Hung Lin

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature

S. B. Gram, J. Bjerrelund, A. M. Jelsig, A. Bygum, C. Leboeuf-Yde, L. B. Ousager

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Sandra D.K. Kingma, Julie Neven, An Bael, Marije E.C. Meuwissen, Machiel van den Akker

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis

Tin-Suet Joan Lee, Meera Chopra, Raymond H Kim, Patricia C. Parkin, Carolina Barnett-Tapia

Changing clinical manifestations of Gaucher disease in Taiwan

Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang, Ni-Chung Lee

Prevalence and quality of temporomandibular disorders, chronic pain and psychological distress in patients with classical and hypermobile Ehlers-Danlos syndrome: an exploratory study

Leon Willich, Lauren Bohner, Jeanette Köppe, Jochen Jackowski, Marcel Hanisch, Ole Oelerich

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients

Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung, Michael Kai-Tsun To

Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review

S. Ombashi, P. A. J. van der Goes, S. L. Versnel, R. H. Khonsari, A. E. Mink van der Molen

Sintilimab treatment for chronic active Epstein–Barr virus infection and Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis in children

Ruyue Chen, Qiang Lin, Yun Zhu, Yunyan Shen, Qinying Xu, Hanyun Tang, Ningxun Cui, Lu Jiang, Xiaomei Dai, Weiqing Chen, Xiaozhong Li

Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders

A. Morin, G. Carle, A. Ponchel, G. Fernández-Eulate, Y. Nadjar

Innovative thinking of clinical investigation for rare disease drug development

Peijin Wang, Shein-Chung Chow

Health-related quality of life in a european sample of adults with early-treated classical PKU

Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts

Integrative rare disease biomedical profile based network supporting drug repurposing or repositioning, a case study of glioblastoma

Erin McGowan, Jaleal Sanjak, Ewy A. Mathé, Qian Zhu

Low-dose anti-IL 5 treatment in idiopathic hypereosinophilic syndrome: towards a precision medicine approach for remission maintenance

Marco Caminati, Matteo Maule, Roberto Benoni, Claudio Micheletto, Cristina Tecchio, Rachele Vaia, Lucia De Franceschi, Gabriella Guarnieri, Andrea Vianello, Gianenrico Senna

Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science

Mengdan Xu, Guozhi Li, Jiazhao Li, Huiyu Xiong, Suzhen He

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

Yunan Wang, Chang Liu, Rong Hu, Juan Geng, Jian Lu, Xin Zhao, Ying Xiong, Jing Wu, Aihua Yin

Late-onset cblC defect: clinical, biochemical and molecular analysis

Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

Kristina Grigalionienė, Birutė Burnytė, Laima Ambrozaitytė, Algirdas Utkus

Small intestinal mucosal abnormalities using video capsule endoscopy in intestinal lymphangiectasia

Lin Lin, Kuiliang Liu, Hong Liu, Jianfeng Xin, Yuguang Sun, Song Xia, Wenbin Shen, Jing Wu

Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF

Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project

Alessandra Ferlini, Edith Sky Gross, Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad Lysogene, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Georgi Stefanov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi

Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

Philippe F. Backeljauw, Mary Andrews, Peter Bang, Leo Dalle Molle, Cheri L. Deal, Jamie Harvey, Shirley Langham, Elżbieta Petriczko, Michel Polak, Helen L. Storr, Mehul T. Dattani

Supporting patients in the transition to the revised pexidartinib dosing regimen: perspectives from the multidisciplinary clinical and allied health professional team

Colleen McCabe, Hillary Wright, Kathleen Polson, Andrew J. Wagner

Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers

Migle Lindziute, Jessica Kaufeld, Karsten Hufendiek, Ingo Volkmann, Dorothee Brockmann, Sami Hosari, Bettina Hohberger, Mardin Christian, Carsten Framme, Tode Jan, Katerina Hufendiek

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz

Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience

Kate Williams, Georgina Tickler, Pedro Valdivielso, Jordi Alonso, Montserrat Vera-Llonch, Laia Cubells, Sarah Acaster

A pilot study: handgrip as a predictor in the disease progression of SCA3

Chungmin Chiu, Wenling Cheng, Yongshiou Lin, Tatsung Lin, Huiju Chang, Yujun Chang, Chiaju Lee, Henhong Chang, Chinsan Liu

Retraction Note: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu, Yingpu Sun

Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up

Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek, Linda E. M. van den Berg

The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data

Enrico Bertini, Emily Gregg, Chris Bartlett, Vij Senthilnathan, Mick Arber, Deborah Watkins, Sara Graziadio, Ioannis Tomazos

Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores

Vaiva Deltuvaite-Thomas, Mickaël De Backer, Samantha Parker, Marie Deneux, Lynda E. Polgreen, Cara O’Neill, Samuel Salvaggio, Marc Buyse

Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease

Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson, Ana Jovanovic

Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal

Yukio Ando, Marcia Waddington-Cruz, Yoshiki Sekijima, Haruki Koike, Mitsuharu Ueda, Hiroaki Konishi, Tomonori Ishii, Teresa Coelho

The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases

Federica Pieroni, Sonia Marrucci, Linda Di Pietro, Cecilia Berni, Cristina Scaletti

Current trials in erythropoietic protoporphyria: are placebo controls ethical?

Jasmin Barman-Aksözen, Mattia Andreoletti, Alessandro Blasimme

First-line nivolumab plus ipilimumab for unresectable MPM in China: a cost-effectiveness analysis

Liu Yang, Xiaobing Song, Wanxian Zeng, Zhiwei Zheng, Wenqiang Lin

Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility

Gry Velvin, Vigdis Johnsen, Ingeborg Beate Lidal, Ellen Berg

Patient pathways for rare diseases in Europe: ataxia as an example

Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti

Congenital disorders of glycosylation (CDG): state of the art in 2022

Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira

Does the registry speak your language? A case study of the Global Angelman Syndrome Registry

Megan Tones, Nikolajs Zeps, Yvette Wyborn, Adam Smith, Roberto A. Barrero, Helen Heussler, Meagan Cross, James McGree, Matthew Bellgard

Correction: Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations

Lucia Masárová, Roman Panovský, Martin Pešl, Luz Mojica-Pisciotti Mary, Tomáš Holeček, Vladimír Kincl, Lenka Juříková, Jan Máchal, Lukáš Opatřil, Věra Feitová

Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study

Aleš Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L. West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Derralynn Hughes

Prognostic factors for the long term outcome after surgical celiac artery decompression in MALS

Anna Woestemeier, Alexander Semaan, Andreas Block, Jan Arensmeyer, Jonas Dohmen, Alexander Kania, Frauke Verrel, Martin Mücke, Jörg C. Kalff, Philipp Lingohr

Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

Woosub Shin, Martina Kutmon, Eleni Mina, Therese van Amelsvoort, Chris T Evelo, Friederike Ehrhart

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China

Wanlu Liu, Jing Cao, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu

Cost of illness in inclusion body myositis: results from a cross-sectional study in Germany

Katja C. Senn, Simone Thiele, Karsten Kummer, Maggie C. Walter, Klaus H. Nagels

Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa

A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition

M Erculiani, F Poluzzi, G Mottadelli, E Felici, Novi ML, M Caraccia, A Grandi, S Casella, L Giacometti, G Montobbio, I Ceccherini, E Di Marco, C Bonaretti, R Biassoni, M Squillario, A Pietrantoni, V Villanacci, A Pini Prato

The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia

Yao-Yuan Chang, Chia-Che Lee, Sheng-Chieh Lin, Ken N. Kuo, Jia-Feng Chang, Kuan-Wen Wu, Ting-Ming Wang

Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience

Mariangela Pellegrini, Subarna Chakravorty, Maria del Mar Manu Pereira, Beatrice Gulbis, Catriona Gilmour-Hamilton, Sandy Hayes, Mariane de Montalembert, Baba Psalm Duniya Inusa, Raffaella Colombatti, Noémi BA Roy

Costs of orphan medicinal products: longitudinal analysis of expenditure in Wales

Yankier Pijeira Perez, Eifiona Wood, Dyfrig A Hughes

A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT

Karen S. Yee, Costel Chirila, Eric Davenport, Deirdre Mladsi, Christine Barnett, William G. Kronenberger

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi

Incidence and survival of transthyretin amyloid cardiomyopathy from a French nationwide study of in- and out-patient databases

Thibaud Damy, Guillaume Bourel, Michel Slama, Vincent Algalarrondo, Olivier Lairez, Pauline Fournier, Jérôme Costa, Françoise Pelcot, Agnès Farrugia, Isabelle Durand Zaleski, Hervé Lilliu, Caroline Rault, Mathilde Bartoli, Stéphane Fievez, Anna Granghaud, Jeremie Rudant, Agathe Coste, Charlotte Noirot Cosson, Pierre-Alexandre Squara, Marion Narbeburu, Bertrand De Neuville, Philippe Charron

Employment, occupation, and income in adults with neurofibromatosis 1 in Denmark: a population- and register-based cohort study

Line Kenborg, Line E. Frederiksen, Michael Galanakis, Karoline Doser, Thomas T. Nielsen, Mia Aagaard Doherty, Hanne Hove, John R. Østergaard, Mette M. Handrup, Cecilie Ejerskov, John J. Mulvihill, Jeanette F. Winther

Fibro-adipose vascular anomaly (FAVA) - diagnosis, staging and management

Huaijie Wang, Chong Xie, Weilong Lin, Peihua Wang, Weijia Yang, Zhengtuan Guo

International Undiagnosed Diseases Programs (UDPs): components and outcomes

Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex

D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien

Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study

Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez, Eugenia Cisneros-Barroso

Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center study

Chuanxin Duan, Wangji Zhou, Miaoyan Zhang, Chongsheng Cheng, Wenshuai Xu, Jinrong Dai, Shuzhen Meng, Keqi Chen, Yang Zhao, Song Liu, Shao-Ting Wang, Yanli Yang, Kai-Feng Xu, Xinlun Tian

The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function

Anne Lørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, Christian Nielsen, Bibi Lange, Annette Dam Fialla, Pernille Just Vinholt

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome

Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben, Jessica L. Fetterman

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang, Zhi-qiang Wang

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian, Simon A. Jones

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina

Wolfram syndrome type 1: a case series

Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat, Yanying Guo

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

Alena Welters, Sarah M Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann, Eckhard Korsch, Thomas Meissner, Felicity Payne, Rachel Williams, Khalid Hussain, Robert K. Semple, Sebastian Kummer

Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?

Mohamed Sedky, Seham Gohar, Sonia Ahmed, Iman Zaky, Asmaa Salama, Omayma Hassanein, Eslam Maher, Alaa ElHaddad

Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello, Paola Facchin

Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis

Soho Yoon, Minjee Lee, Hoi-In Jung, M. Mahmud Khan, So-Yoon Kim, Hannah Kim, Sophia Wasti

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

Holly Walton, Pei Li Ng, Amy Simpson, Lara Bloom, Lyn S. Chitty, Naomi J. Fulop, Amy Hunter, Jennifer Jones, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Kerry Leeson-Beevers, Sharon Parkes, Angus I. G. Ramsay, Alastair Sutcliffe, Christine Taylor, Stephen Morris

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji

Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK

Sara Boyce, Simon Fletcher, April Jones, Ruchika Kohli, Sarah Mangles, Min Ong, Debra Pollard, Sujan Sivasubramaniyam, David Stephensen, Nicola Stoner, Rashid Kazmi

Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients

Yi Yang, An Song, Fengying Gong, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang, Hui Pan

Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022

Jiayu Wu, Yang Yang, Jiaxin Yu, Luyao Qiao, Wei Zuo, Bo Zhang

Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study

Zhen Wang, Erwei Feng, Yang Jiao, Junduo Zhao, Xin Chen, Haozhi Zhang, Jinqian Liang, Zheng Li, Xulei Cui, Weiyun Chen, Jianxiong Shen

Correction: Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine

Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis

Min Lang, Hua-cong Cai, He Lin, Long Chang, Jia-wen Dai, Jia Chen, Ming-hui Duan, Dao-bin Zhou, Gaurav Goyal, Xin-xin Cao

Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis

Yixuan Li, Peipei Du, Xuebin Zhang, Chenyu Ren, Xinyi Shi, Xinglu Dong, Chi Zhang

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala

The improvement of motor symptoms in Huntington’s disease during cariprazine treatment

Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar

Using theory of change to co-create a programme theory for a telerehabilitation intervention for pain management in people with haemophilia

Paul McLaughlin, Michael Hurley, Pratima Chowdary, Kate Khair, Clive Smith, David Stephensen

Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice

Ine Cockerell, Jakob Christensen, Christina E. Hoei-Hansen, Lotte Holst, Mikkel Grenaa Frederiksen, Aart Imran Issa-Epe, Bård Nedregaard, Ragnar Solhoff, Ketil Heimdal, Cecilie Johannessen Landmark, Caroline Lund, Terje Nærland

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar

Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome

Dariusz Walkowiak, Jan Domaradzki

Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia

Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua, Chuan Wang

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien

Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey

Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study

Yutaka Horie, Yuka Yasuoka, Tomohide Adachi

Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardiac surgery

Cong Li, Zhuoting Zhu, Haiyun Yuan, Yijun Hu, Yunlian Xue, Pingting Zhong, Manqing Huang, Yun Ren, Yu Kuang, Xiaomin Zeng, Honghua Yu, Xiaohong Yang

Delineating family needs in the transition from hospital to home for children with medical complexity: part 1, a meta-aggregation of qualitative studies

L. van de Riet, M. W. Alsem, E. C. van der Leest, F. S. van Etten-Jamaludin, J. M. Maaskant, J. B. M. van Woensel, C. D. van Karnebeek

Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study

L. van de Riet, M. W. Alsem, R. S. I. Beijneveld, J. B. M. van Woensel, C. D. van Karnebeek

Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance

Zi-qi Zhou, Hua-yan Xu, Hang Fu, Ke Xu, Rong Xu, Xiao-tang Cai, Ying-kun Guo

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco

Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

Irene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos, María Ángeles Fernández-Galán, Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga, Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz, Patricia Correcher-Medina, Luis Javier García-Frade, Jesús María Hernández-Rivas, Francesca Labbadia, Jesus Miguel López-Dupla, María Luisa Lozano-Almela, Elvira Mora-Casterá, María Soledad Noya-Pereira, María Ángeles Ruíz-Guinaldo, María del Mar Tormo-Díaz, Isidro Vitoria-Miñana, Isidro Arévalo-Vargas, Marcio Andrade-Campos, Pilar Giraldo

Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials

Martin Geroldinger, Johan Verbeeck, Andrew C. Hooker, Konstantin E. Thiel, Geert Molenberghs, Joakim Nyberg, Johann Bauer, Martin Laimer, Verena Wally, Arne C. Bathke, Georg Zimmermann

Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach

Anna Bruna Ronchetti, Marina Usai, Valentina Savino, Marco Scaglione, Chiara Maria Tacchino, Marta Bertamino, Paolo Moretti, Maja Di Rocco

Experience of life quality from patients with aplastic anemia: a descriptive qualitative study

Ting Liu, Yue Pan, Menghua Ye, Qiuhua Sun, Xinghong Ding, Min Xu