Ausgabe 1/2018
Inhalt (221 Artikel)
Compounded medication for patients with rare diseases
Marc Dooms, Maria Carvalho
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications
Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg
Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial
Jenny Downs, Jenny Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk, Helen Leonard
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund
Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study
Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
An overview of the impact of rare disease characteristics on research methodology
Danielle Whicher, Sarah Philbin, Naomi Aronson
Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR
Trevor Richter, Ghayath Janoudi, William Amegatse, Sandra Nester-Parr
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China
Zhili Jin, Yini Wang, Jingshi Wang, Jia Zhang, Lin Wu, Zhuo Gao, Wenyuan Lai, Zhao Wang
Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease
Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim
International practices in the dietary management of fructose 1-6 biphosphatase deficiency
A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon, E. Drogari, S. Dubois, S. Evans, J. Gribben, G. Gugelmo, C. Heidenborg, I. Hunjan, I. L. Kok, B. Kumru, A. Liguori, D. Mayr, E. Megdad, U. Meyer, R. B. Oliveira, A. Pal, A. Pozzoli, R. Pretese, J. C. Rocha, S. Rosenbaum-Fabian, J. Serrano-Nieto, E. Sjoqvist, C. Timmer, L. White, T. van den Hurk, M. van Rijn, H. Zweers, M. Ziadlou, A. MacDonald
PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases
Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H.-Werner Mewes, Matthias Arnold, Andreas Ruepp
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in Quebec, Australia, Scotland and New Zealand
John I. McCormick, L. Diana Berescu, Nabil Tadros
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system
L. Marti-Sanchez, J. D. Ortigoza-Escobar, A. Darling, M. Villaronga, H. Baide, M. Molero-Luis, M. Batllori, M. I. Vanegas, J. Muchart, L. Aquino, R. Artuch, A. Macaya, M. A. Kurian, Pérez Dueñas
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study
Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden, Bruce Korf
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete, Dan Miléa
Functional improvements in patients with lymphangioleiomyomatosis after sirolimus: an observational study
Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian, Kai-Feng Xu
Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo, Corrado Angelini
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease
Ari Zimran, Michael Wajnrajch, Betina Hernandez, Gregory M. Pastores
TRAPPED - an insight into two sisters’ struggle to access treatment for a rare genetic disease
Mariam Al-Attar
Programmed Sports Therapy (PST) in People with Haemophilia (PwH) “Sports Therapy Model for Rare Diseases”
Thomas Hilberg
Pigmentary mosaicism: a review of original literature and recommendations for future handling
Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir, Anette Bygum
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim, Chang-Seok Ki
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype
Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan, Matthias Griese
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial
Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi, Yushi Zhang
A perspective on “cure” for Rett syndrome
Angus John Clarke, Ana Paula Abdala Sheikh
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
Alitretinoin reduces erythema in inherited ichthyosis
Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat, Juliette Mazereeuw-Hautier
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review
James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China
Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li, Hongfang Ding
Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID
Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli, Pauline Ng
Consensus clinical management guidelines for Niemann-Pick disease type C
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson
Safety, effectiveness, and impact on quality of life of self-administration with plasma-derived nanofiltered C1 inhibitor (Berinert®) in patients with hereditary angioedema: the SABHA study
Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini, Teresa Caballero
Fabry disease in the Spanish population: observational study with detection of 77 patients
Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro, Saida Ortolano
Epidemiology of Sanfilippo syndrome: results of a systematic literature review
Tamás Zelei, Kata Csetneki, Zoltán Vokó, Csaba Siffel
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie, Wei Zheng
GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologies
Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke, Christiane S. Hampe
Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins)
Saskia Ingen-Housz-Oro, Tu-Anh Duong, Benoit Bensaid, Nathalia Bellon, Nicolas de Prost, Dévy Lu, Bénédicte Lebrun-Vignes, Julie Gueudry, Emilie Bequignon, Karim Zaghbib, Gérard Royer, Audrey Colin, Giao Do-Pham, Christine Bodemer, Nicolas Ortonne, Annick Barbaud, Laurence Fardet, Olivier Chosidow, Pierre Wolkenstein, Marc Muraine, Pascal Joly, Florence Tetart, Olivier Dereure, Julie Waton, Brigitte Milpied, Anne-Marie Roguedas-Contios, Nadège Cordel, Claire Bernier, Maria-Polina Konstantinou
Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya, Stephan Zierz
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis
Øivind J. Kanavin, Krister W. Fjermestad
Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study
Catharina M. Mulders-Manders, Tim A. Kanters, Paul L. A. van Daele, Esther Hoppenreijs, G. Elizabeth Legger, Jan A. M. van Laar, Anna Simon, Leona Hakkaart-van Roijen
Pulmonary hemosiderosis in children with Down syndrome: a national experience
Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier, Marie-Catherine Renoux, Jacques de Blic, Sophie Leyronnas, Guillaume Thouvenin, Caroline Perisson, Aimé Ravel, Annick Clement, Harriet Corvol, Nadia Nathan
Patient reported outcome measures in rare diseases: a narrative review
Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin, Melanie Calvert
Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner, Jan M. Friedman
Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis
Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert, Christian F. Poets
Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?
Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden
European principles of inhibitor management in patients with haemophilia
P. L. F. Giangrande, C. Hermans, B. O’Mahony, P. de Kleijn, M. Bedford, A. Batorova, J. Blatný, K. Jansone, J. Astermark, A. Bok, M. Crato, R. d’Oiron, A. Dougall, K. Fijnvandraat, S. Grønhaug, V. Jiménez-Yuste, M. Jokić, S. Lobet, B. Nolan, F. Peyvandi, A. Ryan
Revealed preferences towards the appraisal of orphan drugs in Poland - multi criteria decision analysis
Katarzyna Kolasa, Krzysztof Miroslaw Zwolinski, Vladimir Zah, Zoltán Kaló, Tadeusz Lewandowski
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts
GNE myopathy: from clinics and genetics to pathology and research strategies
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman
Individualized approach to the surgical management of fibrous dysplasia of the proximal femur
Bas C. J. Majoor, Andreas Leithner, Michiel A. J. van de Sande, Natasha M. Appelman-Dijkstra, Neveen A. T. Hamdy, P. D. Sander Dijkstra
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies
Emel Aygören-Pürsün, Markus Magerl, Andreas Maetzel, Marcus Maurer
Naxos disease: from the origin to today
Guo-Liang Li, Ardan M. Saguner, Guy H. Fontaine
Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis
Nadine Zwink, Ekkehart Jenetzky
Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome
Elsa G. Shapiro, Chester B. Whitley, Julie B. Eisengart
Lessons learned from IDeAl — 33 recommendations from the IDeAl-net about design and analysis of small population clinical trials
Ralf-Dieter Hilgers, Malgorzata Bogdan, Carl-Fredrik Burman, Holger Dette, Mats Karlsson, Franz König, Christoph Male, France Mentré, Geert Molenberghs, Stephen Senn
A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome
Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka, Kuniaki Seyama
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
Improving the analysis of composite endpoints in rare disease trials
Martina McMenamin, Anna Berglind, James M. S. Wason
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients
Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek, Ans T. van der Ploeg
A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases
Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo, Dedee F. Murrell
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin
Next generation phenotyping using narrative reports in a rare disease clinical data warehouse
Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Nadia Bahi-Buisson, Jeanne Amiel, Capucine Picard, Nizar Mahlaoui, Vincent Benoit, Anita Burgun, Bastien Rance
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon
MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders
Josef Finsterer, Sinda Zarrouk-Mahjoub
Retinal and optic nerve degeneration in α-mannosidosis
Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann, Susanne Pitz
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Shuan-Pei Lin
Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema
Urs C. Steiner, Lea Kölliker, Christina Weber-Chrysochoou, Peter Schmid-Grendelmeier, Elsbeth Probst, Walter A. Wuillemin, Arthur Helbling
Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer’s dementia
Andreas Johnen, Matthias Pawlowski, Thomas Duning
What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
Tessa van Dijk, Frank Baas, Peter G. Barth, Bwee Tien Poll-The
Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis
Yuko Shimizu-Motohashi, Terumi Murakami, En Kimura, Hirofumi Komaki, Norio Watanabe
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang, Lihua Cao
How to address the challenges of evaluating treatment benefits-risks in rare diseases? A convergent mixed methods approach applied within a Merkel cell carcinoma phase 2 clinical trial
Murtuza Bharmal, Isabelle Guillemin, Alexia Marrel, Benoit Arnould, Jérémy Lambert, Meliessa Hennessy, Fatoumata Fofana
Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial Hypercholesterolaemia
Dirk J. Blom, Marina Cuchel, Miranda Ager, Helen Phillips
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, Mireia Del Toro, Maria Alice Donati, Angeles García-Cazorla, María Julieta González, Celine Plisson, Vincenzo Giordano
Increased extracellular matrix deposition during chondrogenic differentiation of dental pulp stem cells from individuals with neurofibromatosis type 1: an in vitro 2D and 3D study
Paula Nascimento Almeida, Deuilton do Nascimento Barboza, Eloá Borges Luna, Maria Clara de Macena Correia, Rhayra Braga Dias, Ana Caroline Siquara de Sousa, Maria Eugenia Leite Duarte, Maria Isabel Doria Rossi, Karin Soares Cunha
Thymectomy in nonthymomatous myasthenia gravis - systematic review and meta-analysis
Antônio J. M. Cataneo, Gilmar Felisberto Jr., Daniele C. Cataneo
Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review
Salma Adham, Denis Trystram, Juliette Albuisson, Valérie Domigo, Anne Legrand, Xavier Jeunemaitre, Michael Frank
Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis
Gina A. Montoya Parra, Rani H. Singh, Aysun Cetinyurek-Yavuz, Mirjam Kuhn, Anita MacDonald
Longitudinal hearing loss in Wolfram syndrome
Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E. C. Lieu, Tamara Hershey
Carbohydrate status in patients with phenylketonuria
María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis
Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu, Beth K. Potter
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies
Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype
Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang, Xue Zhang
Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases
Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres, Carlos Cantú-Brito
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
Nicola Longo, Roberto Zori, Melissa P. Wasserstein, Jerry Vockley, Barbara K. Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore, Janet A. Thomas
Comprehensive genetic characteristics of dystrophinopathies in China
Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J. Boado, Igor Nestrasil, Carol Nguyen, Steven Chen, William M. Pardridge
Molecular diagnosis of anti-laminin 332 (epiligrin) mucous membrane pemphigoid
Roxana Chiorean, Sorina Danescu, Oana Virtic, Mayson B. Mustafa, Adrian Baican, Annette Lischka, Takashi Hashimoto, Yoshinobu Kariya, Manuel Koch, Cassian Sitaru
Challenges of palliative care in children with inborn metabolic diseases
Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Janßen, Michaela Kuhlen
Transcriptome level analysis in Rett syndrome using human samples from different tissues
Stephen Shovlin, Daniela Tropea
Alpha-1 antitrypsin deficiency: outstanding questions and future directions
María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas, Francisco Dasí
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study
Livia Savarese, Maria Bova, Raffaella De Falco, Maria Domenica Guarino, Raffaele De Luca Picione, Angelica Petraroli, Riccardo Senter, Claudia Traverso, Matteo Zabotto, Andrea Zanichelli, Eugenio Zito, Maria Alessio, Mauro Cancian, Marco Cicardi, Adriana Franzese, Roberto Perricone, Gianni Marone, Paolo Valerio, Maria Francesca Freda
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Anatomy of the ventricular septal defect in congenital heart defects: a random association?
Meriem Mostefa-Kara, Lucile Houyel, Damien Bonnet
MicroRNAs are appropriate in mitochondrial related hearing loss? Answer to the skepticism
Arianna Di Stadio, Corrado Angelini
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Acid ceramidase deficiency: Farber disease and SMA-PME
Fabian P. S. Yu, Samuel Amintas, Thierry Levade, Jeffrey A. Medin
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study
Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain, Richard Thompson
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
Sarah F. Barclay, Casey M. Rand, Lisa Nguyen, Richard J. A. Wilson, Rachel Wevrick, William T. Gibson, N. Torben Bech-Hansen, Debra E. Weese-Mayer
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life
Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste
Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials
Jatinder Singh, Paramala Santosh
Prevalence and healthcare burden of pulmonary alveolar proteinosis
Cormac McCarthy, Ruzan Avetisyan, Brenna C. Carey, Claudia Chalk, Bruce C. Trapnell
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami
Craniofacial and oral alterations in patients with Neurofibromatosis 1
Vivian Visnapuu, Sirkku Peltonen, Lotta Alivuotila, Risto-Pekka Happonen, Juha Peltonen
Health-related quality of life in children with PFAPA syndrome
Claire Grimwood, Isabelle Kone-Paut, Maryam Piram, Linda Rossi-Semerano, Véronique Hentgen
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang
The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis
Nannan Gao, Tengyue Zhang, Jiadong Ji, Kai-Feng Xu, Xinlun Tian
Encephalopathies with intracranial calcification in children: clinical and genetic characterization
Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Giovanna Zorzi, Anna Ardissone, Tiziana Granata, Elena Freri, Federica Zibordi, Francesca Ragona, Stefano D’Arrigo, Veronica Saletti, Silvia Esposito, Chiara Pantaleoni, Daria Riva, Valentina De Giorgis, Cristina Cereda, Maria Luisa Valente, Daisy Sproviero, Maria Pilar Poo Arguelles, Carmen Fons Estupina, Anna Maria Sans Fito, Loreto Martorell Sampol, Maria Del Mar O’Callaghan Gordo, Carlos Ignacio Ortez Gonzalez, Veronica Gonzalez Alvarez, Nuria Garcia-Segarra, Carlo Fusco, Enrico Bertini, Daria Diodato, Elisa Fazzi, Jessica Galli, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
Claire L. Shovlin, Elisabetta Buscarini, Anette D. Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini, Sophie Dupuis-Girod
Characterization of vertigo and hearing loss in patients with Fabry disease
Maria Köping, Wafaa Shehata-Dieler, Dieter Schneider, Mario Cebulla, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen, Sebastian P. Schraven
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
Katherine Y. Liu, Jesse D. Sengillo, Gabriel Velez, Ruben Jauregui, Lynn Y. Sakai, Irene H. Maumenee, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
Luca Trotta, Anna Norberg, Mervi Taskinen, Vivien Béziat, Sofie Degerman, Ulla Wartiovaara-Kautto, Hannamari Välimaa, Kirsi Jahnukainen, Jean-Laurent Casanova, Mikko Seppänen, Janna Saarela, Minna Koskenvuo, Timi Martelius
Miglustat in Niemann-Pick disease type C patients: a review
Mercè Pineda, Mark Walterfang, Marc C. Patterson
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera
Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations
Anjali B. Daniel, Vrinda Saraff, Nick J. Shaw, Robert Yates, M. Zulf Mughal, Raja Padidela
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study)
Belén Ruiz-Antoran, Aranzazu Sancho-López, Rosario Cazorla-Calleja, Luis Fernando López-Pájaro, Ágata Leiva, Gema Iglesias-Escalera, Maria Esperanza Marín-Serrano, Marta Rincón-Ortega, Julián Lara-Herguedas, Teresa Rossignoli-Palomeque, Sara Valiente-Rodríguez, Javier González-Marques, Enriqueta Román-Riechmann, Cristina Avendaño-Solá
Dentinogenesis imperfecta type II in Swedish children and adolescents
K. Andersson, B. Malmgren, E. Åström, G. Dahllöf
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
Michel van Weeghel, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse, Annet M. Bosch
Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets
Annie Ting Gee Chiu, Claudia Ching Yan Chung, Wilfred Hing Sang Wong, So Lun Lee, Brian Hon Yin Chung
Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin
Can untreated PKU patients escape from intellectual disability? A systematic review
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
A systematic review of cognitive functioning in early treated adults with phenylketonuria
Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson, Louise Dye
Manual and educational therapy in the treatment of hemophilic arthropathy of the elbow: a randomized pilot study
Rubén Cuesta-Barriuso, Antonia Gómez-Conesa, José-Antonio López-Pina
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory, Juan J. Marugan, Wei Zheng
Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients
Hiroaki Iwata, Artem Vorobyev, Hiroshi Koga, Andreas Recke, Detlef Zillikens, Catherine Prost-Squarcioni, Norito Ishii, Takashi Hashimoto, Ralf J. Ludwig
Rare disease registries: potential applications towards impact on development of new drug treatments
Marijke C. Jansen-van der Weide, Charlotte M. W. Gaasterland, Kit C. B. Roes, Caridad Pontes, Roser Vives, Arantxa Sancho, Stavros Nikolakopoulos, Eric Vermeulen, Johanna H. van der Lee
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
The patient journey to diagnosis and treatment of autoinflammatory diseases
Jonathan S. Hausmann, Kathleen G. Lomax, Ari Shapiro, Karen Durrant
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J. Chris Kingswood, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo YAN, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann
Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
Brigitte Mueller, Raoul Engelbert, Frances Baratta-Ziska, Bart Bartels, Nicole Blanc, Evelise Brizola, Paolo Fraschini, Claire Hill, Caroline Marr, Lisa Mills, Kathleen Montpetit, Verity Pacey, Miguel Rodriguez Molina, Marleen Schuuring, Chantal Verhille, Olga de Vries, Eric Hiu Kwong Yeung, Oliver Semler
A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease
Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed, Atul Mehta
A continuous repetitive task to detect fatigability in spinal muscular atrophy
Marloes Stam, Renske I. Wadman, Bart Bartels, Maureen Leeuw, Henk-Jan Westeneng, Camiel A. Wijngaarde, Leonard H. van den Berg, W. Ludo van der Pol
Description of 22 new alpha-1 antitrypsin genetic variants
Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly
Burden of albinism: development and validation of a burden assessment tool
Fanny Morice-Picard, Charles Taïeb, Aurelie Marti, Antoine Gliksohn, Mohammed Bennani, Christine Bodemer, Khaled Ezzedine
Systemic retinoids for treatment of recalcitrant IgA pemphigus
Franziska Schauer, Johannes Steffen Kern, Dimitra Kiritsi
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions
Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran, Eileen P. Treacy
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu
Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation
Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert
Efficacy of sirolimus for the prevention of recurrent pneumothorax in patients with lymphangioleiomyomatosis: a case series
Li Zhou, Ruoyun Ouyang, Hong Luo, Siying Ren, Ping Chen, Yating Peng, Ting Liu, Guiqian Liu
High hepatic macrophage activation and low liver function in stable Wilson patients - a Danish cross-sectional study
Jessica Björklund, Tea Lund Laursen, Thomas Damgaard Sandahl, Holger Jon Møller, Hendrik Vilstrup, Peter Ott, Henning Grønbæk
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli, Angela Berardinelli, Giacomo Comi, Maria Alice Donati, Maria Teresa Dotti, Marina Grandis, Francesca Magri, Maria A. Maioli, Alessandro Malandrini, Francesco Mari, Roberto Massa, Luciano Merlini, Maurizio Moggio, Lucia O. Morandi, Olimpia Musumeci, Marika Pane, Antonella Pini, Elena Pegoraro, Elena M. Pennisi, Lorenzo Peverelli, Giulia Ricci, Carmelo Rodolico, Lucia Ruggiero, Michele Sacchini, Lucio Santoro, Gabriele Siciliano, Alessandro Simonati, Paola Tonin, Antonio Toscano
Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?
Malte Lenders, Boris Schmitz, Stefan-Martin Brand, Eva Brand
Cost-effectiveness analysis of lumacaftor and ivacaftor combination for the treatment of patients with cystic fibrosis in the United States
Dolly Sharma, Shan Xing, Yu-Ting Hung, Rachel N. Caskey, Maria L. Dowell, Daniel R. Touchette
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age
Ania C. Muntau, Marcel du Moulin, Francois Feillet
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing
Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco, Davide Pareyson
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”
Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang
Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme
Alice Bessey, James B Chilcott, Joanna Leaviss, Anthea Sutton
Treatment patterns and healthcare resource utilization among patients with hereditary angioedema in the United States
Marc A Riedl, Aleena Banerji, Michael E Manning, Earl Burrell, Namita Joshi, Dipen Patel, Thomas Machnig, Ming-Hui Tai, Douglas J Watson
Estrogen is involved in hemangioma regression associated with mast cells
Fang Hou, Yuemeng Dai, Chun-Yang Fan, James Y. Suen, Gresham T. Richter
Comorbid connective tissue diseases and autoantibodies in lymphangioleiomyomatosis: a retrospective cohort study
Shinji Futami, Toru Arai, Masaki Hirose, Chikatoshi Sugimoto, Naoya Ikegami, Masanori Akira, Takahiko Kasai, Masanori Kitaichi, Seiji Hayashi, Yoshikazu Inoue
Investigating the landscape of US orphan product approvals
Kathleen L. Miller, Michael Lanthier
The European challenges of funding orphan medicinal products
Márta Szegedi, Tamás Zelei, Francis Arickx, Anna Bucsics, Emanuelle Cohn-Zanchetta, Jurij Fürst, Maria Kamusheva, Pawel Kawalec, Guenka Petrova, Juraj Slaby, Ewa Stawowczyk, Milan Vocelka, Ingrid Zechmeister-Koss, Zoltán Kaló, Mária Judit Molnár
Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism
Dawn Adams, Richard P Hastings, Clair Alston-Knox, Rina Cianfaglione, Kate Eden, David Felce, Gemma Griffith, Jo Moss, Chris Stinton, Chris Oliver
Recent advances in methodology for clinical trials in small populations: the InSPiRe project
Tim Friede, Martin Posch, Sarah Zohar, Corinne Alberti, Norbert Benda, Emmanuelle Comets, Simon Day, Alex Dmitrienko, Alexandra Graf, Burak Kürsad Günhan, Siew Wan Hee, Frederike Lentz, Jason Madan, Frank Miller, Thomas Ondra, Michael Pearce, Christian Röver, Artemis Toumazi, Steffen Unkel, Moreno Ursino, Gernot Wassmer, Nigel Stallard
Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study
Mohammadamin Najirad, Mang Shin Ma, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Jean-Marc Retrouvey, Sandesh C. S. Nagamani, Francis Glorieux, Paul Esposito, Eric Rush, Michael Bober, David Eyre, Danielle Gomez, Gerald Harris, Tracy Hart, Mahim Jain, Deborah Krakow, Jeffrey Krischer, Eric Orwoll, Cathleen Raggio, Peter Smith, Laura Tosi, Shahrokh Esfandiari
White matter microstructural damage in early treated phenylketonuric patients
María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch, Jaume Campistol
Follow-up analysis of voice quality in patients with late-onset Pompe disease
Krzysztof Szklanny, Anna Tylki-Szymańska
Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood
Emmanuel Gonzales, Lorenza Matarazzo, Stéphanie Franchi-Abella, Alain Dabadie, Joseph Cohen, Dalila Habes, Sophie Hillaire, Catherine Guettier, Anne-Marie Taburet, Anne Myara, Emmanuel Jacquemin
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula, Laurence M. Boon
One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)
Kristen D Brantley, Teresa D Douglas, Rani H Singh
Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex
Michael Ablinger, Thomas K. Felder, Monika Wimmer, Roland Zauner, Peter Hofbauer, Thomas Lettner, Martin Wolkersdorfer, Florian B. Lagler, Anja Diem, Johann W. Bauer, Verena Wally
Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
Tim W. Rattay, Jennifer Just, Benjamin Röben, Holger Hengel, Rebecca Schüle, Matthis Synofzik, Anne S. Söhn, Natalie Winter, Nele Dammeier, Ludger Schöls, Alexander Grimm
Recommendations for the design of small population clinical trials
Simon Day, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Ralf-Dieter Hilgers, Ilan Irony, Kristina Larsson, Kit CB Roes, Nigel Stallard
From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research
Petra Kaufmann, Anne R. Pariser, Christopher Austin
Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany
Antonia Reimer, Leena Bruckner-Tuderman, Hagen Ott
Inhibitor clinical burden of disease: a comparative analysis of the CHESS data
Abiola O. Oladapo, Mei Lu, Shaun Walsh, Jamie O’Hara, Teresa L. Kauf
Federating patients identities: the case of rare diseases
Meriem Maaroufi, Paul Landais, Claude Messiaen, Marie-Christine Jaulent, Rémy Choquet
Applicability and added value of novel methods to improve drug development in rare diseases
Marian Mitroiu, Katrien Oude Rengerink, Caridad Pontes, Aranzazu Sancho, Roser Vives, Stella Pesiou, Juan Manuel Fontanet, Ferran Torres, Stavros Nikolakopoulos, Konstantinos Pateras, Gerd Rosenkranz, Martin Posch, Susanne Urach, Robin Ristl, Armin Koch, Spineli Loukia, Johanna H. van der Lee, Kit C. B. Roes
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
Irina Odnoletkova, Gerhard Kindle, Isabella Quinti, Bodo Grimbacher, Viviane Knerr, Benjamin Gathmann, Stephan Ehl, Nizar Mahlaoui, Philippe Van Wilder, Kris Bogaerts, Esther de Vries, Albert Farrugia, Shanthy Krishnarajah, Joan Mendivil, Mercedes Prior, Tim Rübesam, Michael Runken
Impact of biobanks on research outcomes in rare diseases: a systematic review
Monique Garcia, Jenny Downs, Alyce Russell, Wei Wang
Fear of disease progression in carriers of the m.3243A > G mutation
José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen, Christianne Verhaak
Efficacy and safety of low-dose Sirolimus in Lymphangioleiomyomatosis
Hee-Young Yoon, Jung Jin Hwang, Dong Soon Kim, Jin Woo Song
Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients
Francesca Marini, Francesca Giusti, Maria Luisa Brandi
Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties
Caridad Pontes, Juan Manuel Fontanet, Roser Vives, Aranzazu Sancho, Mònica Gómez-Valent, José Ríos, Rosa Morros, Jorge Martinalbo, Martin Posch, Armin Koch, Kit Roes, Katrien Oude Rengerink, Josep Torrent-Farnell, Ferran Torres
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia – high rate of HPV positivity
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)
Takeya Adachi, Noriaki Imanishi, Yasushi Ogawa, Yoshihiko Furusawa, Yoshihiko Izumida, Yoko Izumi, Makoto Suematsu
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses
Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur, Michèle Mayer
A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015
Bruce Cohen, Cristy Balcells, Brian Hotchkiss, Kavita Aggarwal, Amel Karaa
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Immune cell phenotype and functional defects in Netherton syndrome
Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi, Annamari Ranki
Oncologic orphan drugs approved in the EU – do clinical trial data correspond with real-world effectiveness?
Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied, Violeta Stoyanova-Beninska
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira
Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis
Jason L. Jia, Shiyi Chen, Vishalini Sivarajah, Derek Stephens, Miguel A. Cortez
Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature
Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu, Min Zhu
The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, Nicola Longo
Determining the value contribution of selexipag for the treatment of pulmonary arterial hypertension (PAH) in Spain using reflective multi-criteria decision analysis (MCDA)
Alberto Jiménez, Arantza Ais, Amélie Beaudet, Alicia Gil
Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, Maciej Robert Krawczynski
Air travel and incidence of pneumothorax in lymphangioleiomyomatosis
Cynthia Gonano, Jérôme Pasquier, Cécile Daccord, Simon R. Johnson, Sergio Harari, Violette Leclerc, Lucy Falconer, Eleonora Miano, Jean-François Cordier, Vincent Cottin, Romain Lazor
Comorbidity among HHT patients and their controls in a 20 years follow-up period
Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases
Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy
Leslie Amass, Huihua Li, Balarama K. Gundapaneni, Jeffrey H. Schwartz, Denis J. Keohane
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin, Jeng-Daw Tsai
Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”
R. Bertalan, A. Lucas-Herald, Z. Kolesinska, M. Berra, Martine Cools, A. Balsamo, O. Hiort
Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing’s syndrome
Naomi Knoble, Gabrielle Nayroles, Cherry Cheng, Benoit Arnould
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism
Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow, Reinhard W. Holl
Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? –a single-center cross-sectional study
Heidi Arponen, Adel Bachour, Leif Bäck, Helena Valta, Antti Mäkitie, Janna Waltimo-Sirén, Outi Mäkitie