Ausgabe 1/2017
Inhalt (188 Artikel)
Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients’ health needs?
R. Rodriguez-Monguio, T. Spargo, E. Seoane-Vazquez
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
John C. Kingswood, Guillaume B. d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O’Callaghan, Mirjana P. Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay
Moebius sequence –a multidisciplinary clinical approach
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency
Zsuzsanna Zotter, Zsolt Nagy, Attila Patócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi, Henriette Farkas
FOXN1 deficient nude severe combined immunodeficiency
Ioanna A. Rota, Fatima Dhalla
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan, Melissa Mae P. Baluyot, Cynthia P. Cordero, Catherine Lynn T. Silao
Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules
Luciana Kase Tanno, F. Estelle R. Simons, Isabella Annesi-Maesano, Moises A. Calderon, Ségolène Aymé, Pascal Demoly
Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects
N. Guérard, O. Morand, J. Dingemanse
Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs
C. Schey, P. F. M. Krabbe, M. J. Postma, M. P. Connolly
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang Tso Lee, Manju A. Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Challenges in orphan drug development and regulatory policy in China
Alice Cheng, Zhi Xie
Bibliometric analysis of literature on toxic epidermal necrolysis and Stevens-Johnson syndrome: 1940 – 2015
Waleed M. Sweileh
The burden of amyloid light chain amyloidosis on health-related quality of life
Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie, Michelle K. White
Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard
Evolving prevalence of haematological malignancies in orphan designation procedures in the European Union
Benedetta Polsinelli, Stelios Tsigkos, Frauke Naumann-Winter, Segundo Mariz, Bruno Sepodes
Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)
Valérie Attali, Christian Straus, Michel Pottier, Marie-Annick Buzare, Capucine Morélot-Panzini, Isabelle Arnulf, Thomas Similowski
Diseases associated with calcium-sensing receptor
C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou, M. C. Vantyghem
High prevalence of autoimmune disease in the rare inflammatory bone disorder sternocostoclavicular hyperostosis: survey of a Dutch cohort
Pieter A. Valkema, Clare H. Luymes, Janneke E. Witteveen, Saskia le Cessie, Natasha M. Appelman-Dijkstra, Pancras C. W. Hogendoorn, Neveen A. T. Hamdy
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
Roberta Battini, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud, Fanny Mochel
Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease
Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia, José A. Sánchez-Alcázar
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams, Maria Bitner-Glindzicz
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Simon A. Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang, Vassili Valayannopoulos
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
Evaluation of a web-based registry of inherited bleeding disorders: a descriptive study of the Brazilian experience with HEMOVIDAweb Coagulopatias
Suely Meireles Rezende, Silvia Helena Lacerda Rodrigues, Kelly Neves Pinheiro Brito, Diego Lima Quintino da Silva, Marcos Lázaro Santo, Bárbara de Jesus Simões, Guilherme Genovez, Helder Teixeira Melo, João Paulo Baccara Araújo, Danila Augusta Accioly Varella Barca, Anelisa Schittini Costa Streva, Katty Pollyanni Ferreira Silveira, Sylvia Daniella Freitas de Souza, Sandra Sibele Leite Vieira de Figueiredo, Dario Itapary Nicolau, Irian Guedes Farkatt, Ana Elzira Dantas Leopoldino Rocha, Íris Maciel Costa, Rosângela de Albuquerque Ribeiro, Maria do Carmo da Silva Assunção, Viviane Pereira de Moraes, Ana Lice Sousa de Sena, Thereza Cristina Picado Pinheiro, Witânia Do Socorro Cardoso Silva, Pollyana Gomes de Souza Pimenta, Juliana Camila Lopes Cavaion, Julimara Moreira Rocha Leonel de Paiva, Dalva Gloria Ferreira França Barbacena, Sonia Maria Nunes De Barros, Maria do Perpétuo S. V. Orletti, Mitiko Murao, Luciene Figueiredo, Liana Andrade Labres de Souza, Denise Linhares Gerent, Giovana Fecker da Costa Diaz, Jouse Fonseca Bittencourt, Walquíria Lima de Almeida
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek, Maria Blomqvist
“It’s not all in my head!” - The complex relationship between rare diseases and mental health problems
Rebecca Nunn
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
S. C. Grünert, I. Bodi, K. E. Odening
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
Early disease progression of Hurler syndrome
Bridget T. Kiely, Jennifer L. Kohler, Hannah Y. Coletti, Michele D. Poe, Maria L. Escolar
Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
Nafissa Mamoudjy, Hélène Maurey, Isabelle Marie, Isabelle Koné-Paut, Kumaran Deiva
Non-optic glioma in adults and children with neurofibromatosis 1
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Jan M. Friedman, Victor-Felix Mautner
Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide
Mark Davies, Anurag Saxena, John C. Kingswood
Are products with an orphan designation for oncology indications different from products for other rare indications? A retrospective analysis of European orphan designations granted between 2002-2012
Kim Pauwels, Isabelle Huys, Minne Casteels, Kristina Larsson, Caroline Voltz, Karri Penttila, Thomas Morel, Steven Simoens
The RENAPE observational registry: rationale and framework of the rare peritoneal tumors French patient registry
L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset, F. N. Gilly, Julio Abba, Karine Abboud, Mohammad Alyami, Catherine Arvieux, Gerlinde Averous, Naoual Bakrin, Gisèle Balagué, Vincent Barrau, Houda Ben Rejeb, Jean-Marc Bereder, Isabelle Berton-Rigaud, Isabelle Bonnefoy, Dominique Bouzard, Ivan Bricault, Cécile Brigand, Sébastien Carrère, Cécile de Chaisemartin, Madleen Chassang, Anne Chevallier, Thomas Courvoisier, Peggy Dartigues, Anthony Dohan, Clarisse Dromain, Julien Dubreuil, Frédéric Dumont, Clarisse Eveno, Marie Faruch-Bilfeld, Gwenaël Ferron, Juliette Fontaine, Laure Fournier, Johan Gagniere, Delphine Geffroy, Laurent Ghouti, Laurence Gladieff, Diane Goéré, Aymeric Guibal, Jean-Marc Guilloit, Frédéric Guyon, Bruno Heyd, Christine Hoeffel, Constance Hordonneau, Peggy Jourdan-Enfer, Rachid Kaci, Reza Kianmanesh, Catherine Labbé-Devilliers, Joëlle Lacroix, Bernard Lelong, Agnès Leroux-Broussier, Yoann Lherm, Réa Lo Dico, Gérard Lorimier, Caroline Malhaire, Frédéric Marchal, Pascale Mariani, Emilie Mathiotte, Pierre Meeus, Eliane Mery, Simon Msika, Cédric Nadeau, Pablo Ortega-Deballon, Olivier Pellet, Patrice Peyrat, Nicolas Pirro, Marc Pocard, Flora Poizat, Jack Porcheron, Anaïs Poulet, François Quenet, Patrick Rat, Pierre Rousselot, Hélène Senellart, Martine Serrano, Vincent Servois, Olivia Sgabura, Andrea Skanjeti, Magali Svrcek, Raphaël Tetreau, Emilie Thibaudeau, Yann Touchefeu, Jean-Jacques Tuech, Séverine Valmary-Degano, Delphine Vaudoyer, Stéphane Velasco, Véronique Verriele-Beurrier, Romuald Wernert, Franck Zinzindohoue
A new framework for evaluating the health impacts of treatment for Gaucher disease type 1
Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb
Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial
Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble, Linda H. Cripe
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Time to diagnosis in juvenile idiopathic arthritis: a french perspective
Laura Aoust, Linda Rossi-Semerano, Isabelle Koné-Paut, Perrine Dusser
Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov
Siew Wan Hee, Adrian Willis, Catrin Tudur Smith, Simon Day, Frank Miller, Jason Madan, Martin Posch, Sarah Zohar, Nigel Stallard
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study
Martje E. van Egmond, Amerins Weijenberg, Margreet E. van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A. J. Tijssen, Oebele F. Brouwer, Tom J. de Koning
Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence
Christian F. Poets, Christoph Maas, Wolfgang Buchenau, Joerg Arand, Anne Vierzig, Bert Braumann, Silvia Müller-Hagedorn
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H. Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S. Lotz-Havla, Alain Munafo, Diane R. Mould, Flavie Moreau-Stucker, Daniela Rogoff
Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy
Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome
Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K. L. Phoon, Jeanne F. James, Alexander V. Glukhov, Sabzali Javadov, Frédéric M. Vaz, John L. Jefferies, Arnold W. Strauss, Zaza Khuchua
Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)
Lieven Annemans, Ségolène Aymé, Yann Le Cam, Karen Facey, Penilla Gunther, Elena Nicod, Michele Reni, Jean-Louis Roux, Michael Schlander, David Taylor, Carlo Tomino, Josep Torrent-Farnell, Sheela Upadhyaya, Adam Hutchings, Lugdivine Le Dez
mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders
David N. Franz, Jamie K. Capal
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T. Kissel, Shyam C. Madathil, David Orlikowski, Michael I. Polkey, Mark Roberts, Harm A. W. M. Tiddens, Peter Young
Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11)
Luciana Kase Tanno, Robert J. G. Chalmers, Moises A. Calderon, Ségolène Aymé, Pascal Demoly
A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever
Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut
Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema
Anne Aabom, Klaus E. Andersen, Christina Fagerberg, Niels Fisker, Marianne A. Jakobsen, Anette Bygum
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development
M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie, S.F. Ahmed
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism
Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C. Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A. Dwyer
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients
Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu, Shunying Zhao
Health technology assessment of new drugs for rare disorders in Canada: impact of disease prevalence and cost
Nigel S. B. Rawson
7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants
Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan, Claire L. Shovlin
Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery
Binbin Chen, Russ B. Altman
Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction
Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang, Wei Cai
Review of 11 national policies for rare diseases in the context of key patient needs
Safiyya Dharssi, Durhane Wong-Rieger, Matthew Harold, Sharon Terry
Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen
Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi, Adriana Ceci
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
Cardiac pathology in spinal muscular atrophy: a systematic review
C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg, W. L. van der Pol
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays
Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient
Indraneel Banerjee, Diva De Leon, Mark J. Dunne
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
Rebecca C. Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Christopher J. Adams, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mashid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Anna Bican, David P. Bick, Camille L. Birch, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Shan Chen, Gary D. Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, David B. Goldstein, Mary G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine A. Groden, Andrea L. Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew R. Herzog, Ingrid A. Holm, Ellen M. Howerton, Howard J. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, Paul R. Lee, Shawn E. Levy, Denise J. Levy, Richard A. Lewis, Adam P. Liebendorfer, Sharyn A. Lincoln, Carson R. Loomis, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Paul Mazur, Alexandra J. McCarty, Allyn McConkie-Rosell, Alexa T. McCray, Thomas O. Metz, Matthew Might, Paolo M. Moretti, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G. S. Palmer, Jeanette C. Papp, Loren D. M. Pena, John A. Phillips III, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Rachel B. Ramoni Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Sarah Sadozai, Susan L. Samson, Katherine E. Schaffer, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Vandana Shashi, Edwin K. Silverman, Janet S. Sinsheimer, Ariane G. Soldatos, Rebecca C. Spillmann, Kimberly Splinter, Joan M. Stoler, Nicholas Stong, Kimberly A. Strong, Jennifer A. Sullivan, David A. Sweetser, Sara P. Thomas, Cynthia J. Tifft, Nathanial J. Tolman, Camilo Toro, Alyssa A. Tran, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Michael F. Wangler, Mike Warburton, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Alec A. Weech, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Jing Zhang, Patricia A. Zornio, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R. Hooper, Vandana Shashi
Graves’ orbitopathy as a rare disease in Europe: a European Group on Graves’ Orbitopathy (EUGOGO) position statement
P. Perros, L. Hegedüs, L. Bartalena, C. Marcocci, G. J. Kahaly, L. Baldeschi, M. Salvi, J. H. Lazarus, A. Eckstein, S. Pitz, K. Boboridis, P. Anagnostis, G. Ayvaz, A. Boschi, T. H. Brix, N. Currò, O. Konuk, M. Marinò, A. L. Mitchell, B. Stankovic, F. B. Törüner, G. von Arx, M. Zarković, W. M. Wiersinga
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman
Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method
Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza, Carlos R. R. Carvalho
Determinants of orphan drugs prices in France: a regression analysis
Daria Korchagina, Aurelie Millier, Anne-Lise Vataire, Samuel Aballea, Bruno Falissard, Mondher Toumi
Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy
Michael G. Smith, Julie Royer, Joshua Mann, Suzanne McDermott, Rodolfo Valdez
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya
The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review
S. Ryder, R. M. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, M. Jain, J. Kleijnen
Determinants of impaired quality of life in patients with fibrous dysplasia
Bas C. J. Majoor, Cornelie D. Andela, Jens Bruggemann, Michiel A. J. van de Sande, Ad A. Kaptein, Neveen A. T. Hamdy, P. D. Sander Dijkstra, Natasha M. Appelman-Dijkstra
Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic center
Thomas Ness, Daniel Boehringer, Sonja Heinzelmann
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry
Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A. H. Whiteman
Initiating an undiagnosed diseases program in the Western Australian public health system
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys
Probable DRESS syndrome induced by IL-1 inhibitors
L. Polivka, J. S. Diana, A. Soria, C. Bodemer, P. Quartier, S. Fraitag, B. Bader-Meunier
Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis
Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren, Martina C. Cornel
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini
Quantification of gait in mitochondrial m.3243A > G patients: a validation study
Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen, Jan Smeitink
Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia
M. M. Serra, C. H. Besada, A. Cabana Cal, A. Saenz, C. V. Stefani, D. Bauso, A. B. Golimstok, J. C. Bandi, D. H. Giunta, C. M. Elizondo
Thalassemias in South Asia: clinical lessons learnt from Bangladesh
Mohammad Sorowar Hossain, Enayetur Raheem, Tanvira Afroze Sultana, Shameema Ferdous, Nusrat Nahar, Sazia Islam, Mohammad Arifuzzaman, Mohammad Abdur Razzaque, Rabiul Alam, Sonia Aziz, Hazera Khatun, Abdur Rahim, Manzur Morshed
Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study
Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla
Vinblastine chemotherapy in adult patients with langerhans cell histiocytosis: a multicenter retrospective study
Abdellatif Tazi, Gwenaël Lorillon, Julien Haroche, Antoine Neel, Stéphane Dominique, Achille Aouba, Jean-David Bouaziz, Constance de Margerie-Melon, Emmanuelle Bugnet, Vincent Cottin, Thibault Comont, Christian Lavigne, Jean-Emmanuel Kahn, Jean Donadieu, Sylvie Chevret
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)
Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, Hannah Collins, Lindsey Rigby, Mars Skae, Raja Padidela, Stewart Rust, Mark Dunne, Karen Cosgrove, Indraneel Banerjee, Jacqueline Nicholson
Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma
Quan Jiang, Han-Xing Tong, Ying-Yong Hou, Yong Zhang, Jing-Lei Li, Yu-Hong Zhou, Jing Xu, Jiong-Yuan Wang, Wei-Qi Lu
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel
Whipple’s disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure
Cornelia Glaser, Siegbert Rieg, Thorsten Wiech, Christine Scholz, Dominique Endres, Oliver Stich, Peter Hasselblatt, Walter Geißdörfer, Christian Bogdan, Annerose Serr, Georg Häcker, Reinhard E. Voll, Jens Thiel, Nils Venhoff
Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy
Cara A. Timpani, Alan Hayes, Emma Rybalka
PIGO deficiency: palmoplantar keratoderma and novel mutations
Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen Freson
A plea to provide best evidence in trials under sample-size restrictions: the example of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients
Florian Lasch, Kristina Weber, Mwe Mwe Chao, Armin Koch
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity
Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever
Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan, Huri Ozdogan
The cost of severe haemophilia in Europe: the CHESS study
Jamie O’Hara, David Hughes, Charlotte Camp, Tom Burke, Liz Carroll, Daniel-Anibal Garcia Diego
The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital
Francesca De Lorenzo, Marina Macchiaiolo, Carla Maria Carlevaris, Andrea Bartuli
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism
Heike Corda, Sebastian Kummer, Alena Welters, Norbert Teig, Dirk Klee, Ertan Mayatepek, Thomas Meissner
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease
Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong
International physician survey on management of FOP: a modified Delphi study
Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo, Frederick S. Kaplan
Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade
Open issues in Mucopolysaccharidosis type I-Hurler
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders
Kyeongsoon Kim, Hynda K. Kleinman, Hahn-Jun Lee, Kalipada Pahan
Prenatal brain disruption in isolated sulfite oxidase deficiency
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung’s disease in newborns – a nationwide cohort study
Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist
Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III
Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome
Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper, Maithé Tauber
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw, Emmanuelle Bourrat, Annabel Maruani, Stéphanie Mallet, Claire Abasq, Alice Phan, Pierre Vabres, Ludovic Martin, Christine Bodemer, Sylvie Lagrange, Jean-Philippe Lacour
Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics
Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding-Byth, Kym M. Boycott
Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease
Virginia Albiñana, Rosa María Jiménez Escribano, Isabel Soler, Luis Rodríguez Padial, Lucia Recio-Poveda, Karina Villar Gómez de las Heras, Luisa María Botella
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases
Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
Li Ou, Michael J. Przybilla, Chester B. Whitley
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T
Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani
Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study
Dieter Benninghoven, Denise Hamann, Yskert von Kodolitsch, Meike Rybczynski, Julia Lechinger, Friedrich Schroeder, Marina Vogler, Eike Hoberg
Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology, demographics and risk factors
Linda O. Okafor, Peter Hewins, Philip I. Murray, Alastair K. Denniston
Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy
Katherine Boudreault, Sally Justus, Jesse D. Sengillo, Kaspar Schuerch, Winston Lee, Thiago Cabral, Stephen H. Tsang
An update on the use of biologic therapies in the management of uveitis in Behçet’s disease: a comprehensive review
Thomas W. McNally, Erika M. Damato, Philip I. Murray, Alastair K. Denniston, Robert J. Barry
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H. Singh
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience
Vishal Saddi, Sean Beggs, Bruce Bennetts, Joanne Harrison, Neil Hime, Nitin Kapur, Jill Lipsett, Lawrence M. Nogee, Amy Phu, Sadasivam Suresh, André Schultz, Hiran Selvadurai, Stephanie Sherrard, Roxanne Strachan, Julian Vyas, Yvonne Zurynski, Adam Jaffé
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Kathryn R. Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A. Hunter, Meagan Cross, Matthew I. Bellgard
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, David Carlos Shigueoka, Sergio Aron Ajzen, Cristiane Kochi, Fabíola Isabel Suano-Souza, Rosangela da Silva, Beatriz T. Costa-Carvalho, Roseli O. S. Sarni
European Reference networks for rare diseases: what is the conceptual framework?
Véronique Héon-Klin
Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective
A. Crucean, A. Alqahtani, D. J. Barron, W. J. Brawn, R. V. Richardson, J. O’Sullivan, R. H. Anderson, D. J. Henderson, B. Chaudhry
Constipation in adults with neurofibromatosis type 1
Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov, Annette Haagerup
Critical appraisal of arguments for the delayed-start design proposed as alternative to the parallel-group randomized clinical trial design in the field of rare disease
Loukia M. Spineli, Eva Jenz, Anika Großhennig, Armin Koch
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain
Julio López-Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Eduardo Tizzano, Mark Sefton, Juan Oliva-Moreno
What can the CF registry tell us about rare CFTR-mutations? A Belgian study
E. De Wachter, M. Thomas, S. S. Wanyama, S. Seneca, A. Malfroot
Points to consider: efficacy and safety evaluations in the clinical development of ultra-orphan drugs
Kojiro Maeda, Masayuki Kaneko, Mamoru Narukawa, Teruyo Arato
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh
Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis
Franziska Peter, Sebastian Rost, Arndt Rolfs, Moritz J. Frech
Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience
Aram Yang, Jinsup Kim, Sung Yoon Cho, Dong-Kyu Jin
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology
Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat, Alexandre Méjat
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra, Bruno Bembi
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino
Fabry disease and incidence of cancer
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub
Prevalence of Amyloidosis in Korea
Su Ra Seo, Shin Yi Jang, Ga Yeon Lee, Bareun Choi, Heeran Chun, Eun Jeong Cho, Sung-il Cho
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
Marco Ritelli, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, Ma Concepción Miranda, Francisco Carratala, M. Pilar Póo, Bernabé Robles, María L. Couce, Marisa Girós, Laura Gort, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Jordi Muchart, Belén Pérez
The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki, Handrean Soran
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss
Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa, Tatsuo Matsunaga
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia
Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti
Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome
Anca Chiriac, Adrian Naznean, Cristian Podoleanu, Simona Stolnicu
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood
Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
The complete European guidelines on phenylketonuria: diagnosis and treatment
A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter, F. J. van Spronsen
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers
Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink
Unmet clinical needs and burden in Angelman syndrome: a review of the literature
Anne C. Wheeler, Patricia Sacco, Raquel Cabo
Cognitive impairment profile in adult patients with Niemann pick type C disease
Camille Heitz, Stéphane Epelbaum, Yann Nadjar
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
Mortality in patients with Sanfilippo syndrome
Christine Lavery, Chris J. Hendriksz, Simon A. Jones
Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children
Hui Liu, Jinrong Liu, Huimin Li, Yun Peng, Shunying Zhao
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
Rob Ramakers, Saskia Koene, Jan T. Groothuis, Paul de Laat, Mirian C. H. Janssen, Jan Smeitink
Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures
Thomas Morel, Stefan J. Cano
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa
Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States
Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook, W. Dana Flanders
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
Health-related quality of life among adults with diverse rare disorders
Kathleen R. Bogart, Veronica L. Irvin
A novel mutation of HOXA11 in a patient with septate uterus
Ying Zhu, Zhi Cheng, Jing Wang, Beihong Liu, Longfei Cheng, Beili Chen, Yunxia Cao, Binbin Wang
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease
Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken, Leona Hakkaart-van Roijen
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky, Heiko Reutter
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy
Robert E. Brown, Senthil Senniappan, Khalid Hussain, Mary F. McGuire
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients
Sandro Manuel Mueller, Saskia Maria Gehrig, Jens A. Petersen, Sebastian Frese, Violeta Mihaylova, Maria Ligon-Auer, Natalia Khmara, Jean-Marc Nuoffer, André Schaller, Carsten Lundby, Marco Toigo, Hans H. Jung
Down-regulation of miR-9* in the peripheral leukocytes of Huntington’s disease patients
Kuo-Hsuan Chang, Yih-Ru Wu, Chiung-Mei Chen
Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1
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