Ausgabe 1/2016
Inhalt (168 Artikel)
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Hye-Ran Lee, Lotta Högberg, Gintautas Grigelionis, Ok-Hwa Kim, Gen Nishimura, Tae-Joon Cho
The involvement of patient organisations in rare disease research: a mixed methods study in Australia
Deirdre Pinto, Dominique Martin, Richard Chenhall
Proteus syndrome: evaluation of the immunological profile
Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M. R. Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro, Alessandro Plebani
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
Andrea Diociaiuti, May El Hachem, Elisa Pisaneschi, Simona Giancristoforo, Silvia Genovese, Pietro Sirleto, Renata Boldrini, Adriano Angioni
Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions
Nicholas Brodszki, Dominik Turkiewicz, Jacek Toporski, Lennart Truedsson, Josefina Dykes
Erratum to: CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors
Saleh Mones, Burkhard Gess, Benoit Bordignon, Alexandre Altié, Peter Young, Frederic Bihel, Marc Fraterno, Franck Peiretti, Michel Fontes
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
Carla E. M. Hollak, Marieke Biegstraaten, Matthias R. Baumgartner, Nadia Belmatoug, Bruno Bembi, Annet Bosch, Martijn Brouwers, Hanka Dekker, Dries Dobbelaere, Marc Engelen, Marike C. Groenendijk, Robin Lachmann, Janneke G. Langendonk, Mirjam Langeveld, Gabor Linthorst, Eva Morava, Bwee Tien Poll-The, Shamima Rahman, M. Estela Rubio-Gozalbo, Ute Spiekerkoetter, Eileen Treacy, Ronald Wanders, Johannes Zschocke, Rob Hagendijk
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre-Etienne Jacques, Sébastien Chenier, Sandrine Larue, Marie-France Rioux, Walla Al-Hertani, Amelie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer, Stephanie Austin, Priya Kishnani
Gingival fibromatosis: clinical, molecular and therapeutic issues
Katarzyna Gawron, Katarzyna Łazarz-Bartyzel, Jan Potempa, Maria Chomyszyn-Gajewska
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
Karen Anjema, Floris C. Hofstede, Annet M. Bosch, M. Estela Rubio–Gozalbo, Maaike C. de Vries, Carolien C.A. Boelen, Margreet van Rijn, Francjan J. van Spronsen
Extrathoracic investigation in adult patients with isolated pulmonary langerhans cell histiocytosis
Abdellatif Tazi, Constance de Margerie-Mellon, Laetitia Vercellino, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre, Sylvie Chevret
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype
Guoping Peng, Ping Liu, Fangping He, Benyan Luo
Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
R. P. Dias, C. R. Buchanan, N. Thomas, S. Lim, G. Solanki, SEJ Connor, T. G. Barrett, R. R. Kapoor
Systematic reviews in paediatric multiple sclerosis and Creutzfeldt-Jakob disease exemplify shortcomings in methods used to evaluate therapies in rare conditions
Steffen Unkel, Christian Röver, Nigel Stallard, Norbert Benda, Martin Posch, Sarah Zohar, Tim Friede
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks
Teresinha Evangelista, Victoria Hedley, Antonio Atalaia, Matt Johnson, Stephen Lynn, Yann Le Cam, Kate Bushby
The effect of long-term danazol treatment on haematological parameters in hereditary angioedema
Kinga Viktória Kőhalmi, Nóra Veszeli, Zsuzsanna Zotter, Dorottya Csuka, Szabolcs Benedek, Éva Imreh, Lilian Varga, Henriette Farkas
The medical experience of a patient with a rare disease and her family
Roberta Garau
The availability and affordability of orphan drugs for rare diseases in China
Shiwei Gong, Yingxiao Wang, Xiaoyun Pan, Liang Zhang, Rui Huang, Xin Chen, Juanjuan Hu, Yi Xu, Si Jin
Vici syndrome: a review
Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel, Heinz Jungbluth
Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?
Marc M Dooms
Potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement process of orphan drugs
Katarzyna Kolasa, Krzysztof M. Zwolinski, Zoltan Kalo, Tomasz Hermanowski
The P42 peptide and Peptide-based therapies for Huntington’s disease
Cecilia Marelli, Florence Maschat
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
Christianne Verhaak, Paul de Laat, Saskia Koene, Marijke Tibosch, Richard Rodenburg, Imelda de Groot, Hans Knoop, Mirian Janssen, Jan Smeitink
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel
Ten years of specialized adult care for phenylketonuria – a single-centre experience
Ulrike Mütze, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess, Skadi Beblo
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
Bouwien E. Smid, Maria J. Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S. Overkleeft, Carla E. Hollak, Johannes M. Aerts
Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes
Marcelo Mendes Lavezzo, Viviane Mayumi Sakata, Celso Morita, Ever Ernesto Caso Rodriguez, Smairah Frutuoso Abdallah, Felipe T. G. da Silva, Carlos Eduardo Hirata, Joyce Hisae Yamamoto
Survey of healthcare experiences of Australian adults living with rare diseases
Caron Molster, Debra Urwin, Louisa Di Pietro, Megan Fookes, Dianne Petrie, Sharon van der Laan, Hugh Dawkins
Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial
Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labrèze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer, Jean-Philippe Lacour
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, Aline Cano, Maria L. Couce, Mireia Del Toro, Maria Alice Donati, Angeles Garcia-Cazorla, David Gil-Ortega, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Coker, Rosa Lama-More, Mercedes Martinez-Pardo Casanova, Agustin Molina, Samia Pichard, Francesco Papadia, Patricia Rosello, Celine Plisson, Jeannie Le Mouhaer, Anupam Chakrapani
Arrhythmogenic cardiomyopathy
Kalliopi Pilichou, Gaetano Thiene, Barbara Bauce, Ilaria Rigato, Elisabetta Lazzarini, Federico Migliore, Martina Perazzolo Marra, Stefania Rizzo, Alessandro Zorzi, Luciano Daliento, Domenico Corrado, Cristina Basso
Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
Sigrid Baldanzi, Francesca Bevilacqua, Rita Lorio, Leda Volpi, Costanza Simoncini, Antonio Petrucci, Mirco Cosottini, Gabriele Massimetti, Gloria Tognoni, Giulia Ricci, Corrado Angelini, Gabriele Siciliano
POEMS syndrome and calciphylaxis: an unrecognized cause of abnormal small vessel calcification
Nobuyuki Araki, Sonoko Misawa, Kazumoto Shibuya, Satoshi Ota, Takashi Oide, Asuka Kawano, Minako Beppu, Yukio Nakatani, Satoshi Kuwabara
Italian program for independent research on drugs: 10 year follow-up of funded studies in the area of rare diseases
Giuseppe Traversa, Lucia Masiero, Luciano Sagliocca, Francesco Trotta
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system
Channa F. de Winter, Melanie Baas, Emilia K. Bijlsma, John van Heukelingen, Sue Routledge, Raoul C. M. Hennekam
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
Anna Marcé-Grau, James Dalton, Javier López-Pisón, María Concepción García-Jiménez, Lorena Monge-Galindo, Ester Cuenca-León, Jesús Giraldo, Alfons Macaya
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard, Jenny Downs
Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis
Ryan D. Geraets, Seung yon Koh, Michelle L. Hastings, Tammy Kielian, David A. Pearce, Jill M. Weimer
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Bertrand Degos, Yann Nadjar, Maria del Mar Amador, Foudil Lamari, Frédéric Sedel, Emmanuel Roze, Philippe Couvert, Fanny Mochel
Assessing the feasibility of a web-based registry for multiple orphan lung diseases: the Australasian Registry Network for Orphan Lung Disease (ARNOLD) experience
K. Casamento, A. Laverty, M. Wilsher, J. Twiss, E. Gabbay, I. Glaspole, A. Jaffe
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study
Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier, Walter A. Wuillemin
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau, Beat Steinmann
Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print
Claude Hamonet, Daniel Frédy, Jérémie H. Lefèvre, Sacha Bourgeois-Gironde, Jean-David Zeitoun
Life expectancy of parents with Hereditary Haemorrhagic Telangiectasia
E. M. de Gussem, C. P. Edwards, A. E. Hosman, C. J. J. Westermann, R. J. Snijder, M. E. Faughnan, J. J. Mager
Cystinosis: a review
Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel, Elena Levtchenko
MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis
Francesco Bonella, Xiaoping Long, Shinichiro Ohshimo, Yasushi Horimasu, Matthias Griese, Josune Guzman, Nobuoki Kohno, Ulrich Costabel
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
Veronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, Veronique Baccini, Marie-Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet-Lefebvre, Sylvie Daliphard, Marie-Joelle Mozziconacci, Aline Renneville, Paola Ballerini, Guy Leverger, Hagay Sobol, Philippe Jonveaux, Claude Preudhomme, Paquita Nurden, Thomas Lecompte, Remi Favier
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis
M. Rutten, P. Ciet, R. van den Biggelaar, E. Oussoren, J. G. Langendonk, A. T. van der Ploeg, M. Langeveld
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Dafne Dain Gandelman Horovitz, Angelina X. Acosta, Roberto Giugliani, Anna Hlavatá, Katarína Hlavatá, Michel C. Tchan, Anneliese Lopes Barth, Laercio Cardoso Jr., Emília Katiane Embiruçu de Araújo Leão, Ana Carolina Esposito, Sandra Obikawa Kyosen, Carolina Fischinger Moura De Souza, Ana Maria Martins
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S. Alkuraya, Nadine Kraemer, Angela M. Kaindl
Rethinking fatigue in Gaucher disease
Y. Chen Zion, E. Pappadopulos, M. Wajnrajch, H. Rosenbaum
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
Malte Lenders, Frank Weidemann, Christine Kurschat, Sima Canaan-Kühl, Thomas Duning, Jörg Stypmann, Boris Schmitz, Stefanie Reiermann, Johannes Krämer, Daniela Blaschke, Christoph Wanner, Stefan-Martin Brand, Eva Brand
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation
Jun Ju, Shinichi Hirose, Xiu-Yu Shi, Atsushi Ishii, Lin-Yan Hu, Li-Ping Zou
High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome
Veronique Beauloye, Gwenaelle Diene, Renske Kuppens, Francis Zech, Coralie Winandy, Catherine Molinas, Sandy Faye, Isabelle Kieffer, Dominique Beckers, Ricard Nergårdh, Berthold Hauffa, Christine Derycke, Patrick Delhanty, Anita Hokken-Koelega, Maithé Tauber
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel
Disease burden of spinal muscular atrophy in Germany
Constanze Klug, Olivia Schreiber-Katz, Simone Thiele, Elisabeth Schorling, Janet Zowe, Peter Reilich, Maggie C. Walter, Klaus H. Nagels
Impact of orphan drugs on Latvian budget
Konstantins Logviss, Dainis Krievins, Santa Purvina
Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act
Thomas Lutz, Anette Lampert, Georg F. Hoffmann, Markus Ries
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment
Evangelos Minos, Robert J. Barry, Sue Southworth, Annie Folkard, Philip I. Murray, Jay S. Duker, Pearse A. Keane, Alastair K. Denniston
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Valerie Maduro, Barbara N. Pusey, Praveen F. Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R. Adams, Samarth S. Bhatt, Patrice Eydoux, Amanda E. Links, Anna Lehman, May C. Malicdan, Christopher E. Mason, Marie Morimoto, James C. Mullikin, Andrew Sear, Clara Van Karnebeek, Pawel Stankiewicz, William A. Gahl, Camilo Toro, Cornelius F. Boerkoel
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study
Steven Shinn-Forng Peng, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Wen-Hui Tsai, Yin-Hsiu Chien
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis
Rosa Maria Dellepiane, Laura Dell’Era, Paola Pavesi, Paolo Macor, Mara Giordano, Luca De Maso, Maria Cristina Pietrogrande, Massimo Cugno
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
C. I. van Capelle, J. C. van der Meijden, J. M. P. van den Hout, J. Jaeken, M. Baethmann, T. Voit, M. A. Kroos, T. G. J. Derks, M. E. Rubio-Gozalbo, M. A. Willemsen, R. H. Lachmann, E. Mengel, H. Michelakakis, J. C. de Jongste, A. J. J. Reuser, A. T. van der Ploeg
The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network
Peter A. Merkel, Michele Manion, Rashmi Gopal-Srivastava, Stephen Groft, H. A. Jinnah, David Robertson, Jeffrey P. Krischer
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate
Michiko Mori, Michael Dictor, Nicholas Brodszki, Juan Carlos López-Gutiérrez, María Beato, Jonas S. Erjefält, Erik A. Eklund
Pharmaceutical expenditure on drugs for rare diseases in Canada: a historical (2007–13) and prospective (2014–18) MIDAS sales data analysis
Victoria Divino, Mitch DeKoven, Michael Kleinrock, Rolin L. Wade, Tony Kim, Satyin Kaura
Nation-wide epidemiological study of Japanese patients with rare viral myelopathy using novel registration system (HAM-net)
Ariella L. G. Coler-Reilly, Naoko Yagishita, Hiroko Suzuki, Tomoo Sato, Natsumi Araya, Eisuke Inoue, Ayako Takata, Yoshihisa Yamano
Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers
T. Morel, S. Aymé, D. Cassiman, S. Simoens, M. Morgan, M. Vandebroek
The importance of review articles in making the voice of rare diseases heard: OJRD’s 10th anniversary
Ségolène Aymé
Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries
Tamás Zelei, Mária J. Molnár, Márta Szegedi, Zoltán Kaló
Estimating epidemiological data of Multiple sclerosis using hospitalized data in Shandong Province, China
Xiao Liu, Yazhou Cui, Jinxiang Han
Catastrophic expenditure and impoverishment of patients affected by 7 rare diseases in China
Xiao-Xiong Xin, Xiao-Dong Guan, Lu-Wen Shi
Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015
Timm Greulich, Christoph Nell, Christian Herr, Claus Vogelmeier, Viktor Kotke, Stefan Wiedmann, Marion Wencker, Robert Bals, Andreas Rembert Koczulla
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
Roberto Giugliani, Filippo P. Vairo, Mariluce Riegel, Carolina F. M. de Souza, Ida V. D. Schwartz, Sérgio D. J. Pena
The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service
Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Caroline E. Walker, Caron Molster, Jenefer M. Blackwell, Sarra Jamieson, Dave Tang, Timo Lassmann, Kym Mina, John Beilby, Mark Davis, Nigel Laing, Lesley Murphy, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Directions for new developments on statistical design and analysis of small population group trials
Ralf-Dieter Hilgers, Kit Roes, Nigel Stallard, Corinne Alberti, Caroline van Baal, Norbert Benda, Egbert Biesheuvel, Carl Fredrik Burmann, Malgorzata Bogdan, Emmanuelle Comets, Simon Day, Holger Dette, Alex Dmitrienko, Tim Friede, Alexandra Graf, Mats Karlsson, Armin Koch, Franz König, Johanna H. van der Lee, Frederike Lentz, Jason Madan, Christoph Male, France Mentré, Frank Miller, Geert Molenberghs, Beat Neuenschwander, Martin Posch, Cor Oosterwijk, Christian Röver, Stephen Senn, Ferran Torres, Sarah Zohar
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts
Urszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, Quinlan Wylie, Skye McBride, Matthew Lines, Jean Michaud, Stephen D. Baird, Pranesh K. Chakraborty, Martin Holcik
Improvement of sexual function in POEMS syndrome after combination therapy of Lenalidomide and dexamethasone
Hongbo Yang, Xufei Huang, Qianqian Cai, Chen Wang, Xinxin Cao, Daobin Zhou, Jian Li
Characteristics of patients contacting a center for undiagnosed and rare diseases
Tobias Mueller, Andreas Jerrentrup, Max Jakob Bauer, Hans Walter Fritsch, Juergen Rolf Schaefer
A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7
Amy Moriarty, Arron Cook, Helen Hunt, Matthew E. Adams, Lisa Cipolotti, Paola Giunti
Does the route of immunoglobin replacement therapy impact quality of life and satisfaction in patients with primary immunodeficiency? Insights from the French cohort “Visages”
B. Bienvenu, G. Cozon, C. Hoarau, M. Pasquet, P. Cherin, P. Clerson, E. Hachulla, J. C. Crave, J. C. Delain, R. Jaussaud
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré, S. E. H. Moore
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
Hsiang-Yu Lin, Chih-Kuang Chuang, Yu-Hsiu Huang, Ru-Yi Tu, Fang-Ju Lin, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Yen-Yin Chou, Wen-Hui Tsai, Tung-Ming Chang, Shuan-Pei Lin
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
Beth G. Gibson, Michael D. Briggs
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Anne Daly, Anita MacDonald, Corinne De Laet, David Cassiman, François Eyskens, Irene M. L. W. Körver-Keularts, Philippe J. Goyens, Patrick J. McKiernan, Francjan J. van Spronsen
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease
Malte Lenders, Julia B. Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner, Eva Brand
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset
Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong, Xiaoman Wang
TRNT1 deficiency: clinical, biochemical and molecular genetic features
Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton, Shamima Rahman
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda, O. Musumeci, C. Rodolico, S. Messina, G. L. Vita, M. Sframeli, S. Gibertini, L. Morandi, M. Mora, L. Maggi, A. Petrucci, R. Massa, M. Grandis, A. Toscano, E. Pegoraro, E. Mercuri, E. Bertini, T. Mongini, L. Santoro, V. Nigro, C. Minetti, F. M. Santorelli, C. Bruno
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme, Armelle Magot, Laurène Leclair-Visonneau, Tanya Stojkovic, Laura Bossi, Philippe Lehert, Walter Gilbert, Viviane Bertrand, Jonas Mandel, Aude Milet, Rodolphe Hajj, Lamia Boudiaf, Catherine Scart-Grès, Serguei Nabirotchkin, Mickael Guedj, Ilya Chumakov, Daniel Cohen
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Mona Schmidt, Sandra Breyer, Ulrike Löbel, Sinef Yarar, Ralf Stücker, Kurt Ullrich, Ingo Müller, Nicole Muschol
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates
Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid, Fatma A. Al-Jasmi
Erratum to: Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment
Christoph Kampmann, Amandine Perrin, Michael Beck
Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children
A. Soni-Jaiswal, J. Mercer, S. A. Jones, I. A. Bruce, P. Callery
Common disease signatures from gene expression analysis in Huntington’s disease human blood and brain
Eleni Mina, Willeke van Roon-Mom, Kristina Hettne, Erik van Zwet, Jelle Goeman, Christian Neri, Peter A.C. ’t Hoen, Barend Mons, Marco Roos
Health survey of adults with hereditary spastic paraparesis compared to population study controls
Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark, Grete Hummelvoll
Analysis of voice quality in patients with late-onset Pompe disease
Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka, Anna Tylki-Szymańska
Brain morphometry in Pontocerebellar Hypoplasia type 2
Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel, Ingeborg Krägeloh-Mann
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
Brigitte Gilbert-Dussardier, Audrey Briand-Suleau, Ingrid Laurendeau, Frédéric Bilan, Hélène Cavé, Alain Verloes, Michel Vidaud, Dominique Vidaud, Eric Pasmant
Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis
Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodriguez, Rocio Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho, Félix Carvalho, José Barbot, Beatriz Porto
Early pancreatic volume reduction on CT predicts relapse in patients with type 1 autoimmune pancreatitis treated with steroids
Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda, Yoichi Hiasa
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P. Toelle, Eugen Boltshauser, Knut Brockmann
Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy
Saskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, Sandro Manuel Mueller, Maria Ligon-Auer, Christina M. Spengler, Jens A. Petersen, Carsten Lundby, Hans H. Jung
ROHHAD syndrome and evolution of sleep disordered breathing
Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh, Indra Narang
State of rare disease management in Southeast Asia
Asrul Akmal Shafie, Nathorn Chaiyakunapruk, Azuwana Supian, Jeremy Lim, Matt Zafra, Mohamed Azmi Ahmad Hassali
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto
Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease
Eli L. Diamond, Vaios Hatzoglou, Sneha Patel, Omar Abdel-Wahab, Raajit Rampal, David M. Hyman, Andrei I. Holodny, Ashish Raj
Primary immunodeficiency associated with chromosomal aberration – an ESID survey
Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot, Elisabeth Förster-Waldl, Markus Seidel, Annet Simons, Esther de Vries
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration
Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser, René Wildenauer
Phenylketonuria screening in the Republic of Macedonia
Mirjana Kocova, Violeta Anastasovska
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho, Dong-Kyu Jin
Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia
Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux, Noël Peretti
Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures
Ilaria Campo, Maurizio Luisetti, Matthias Griese, Bruce C. Trapnell, Francesco Bonella, Jan Grutters, Koh Nakata, Coline H. M. Van Moorsel, Ulrich Costabel, Vincent Cottin, Toshio Ichiwata, Yoshikazu Inoue, Antonio Braschi, Giacomo Bonizzoni, Giorgio A. Iotti, Carmine Tinelli, Giuseppe Rodi, Toru Arai, Andrey A. Bazhanov, Issahar Ben-Dov, Francesco Bonella, Antonio Braschi, Alicia Casey, Ulrich Costabel, Vincent Cottin, Deniz Dogru, Wolfgang Gesierich, Matthias Griese, Jan C. Grutters, Maija Halme, Michael Henry, Felix J. F. Herth, Wang Hui-ying, Toshio Ichiwata, Julia M. Ilkovich, Yoshikazu Inoue, Giorgio A. Iotti, Sarosh Irani, Vítězslav Kolek, António Morais, Cliff Morgan, Thomas Nicolai, Lubov N. Novikova, Robert Primhak, Karl Reiter, George Retsch-Bogart, Giuseppe Rodi, Eric Russi, Jochen Schmitz, Carola Schön, Christian Schumann, Marcel Veltkamp, Charl Verwey, Robert E. Wood
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F. Hoffmann, Johannes Häberle
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases
H. Montaudié, C. Chiaverini, E. Sbidian, A. Charlesworth, J-P. Lacour
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Jana Neupauerová, Jana Haberlová, Radim Mazanec, Pavel Dřímal, Pavel Seeman
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues
Christian J. Hendriksz, Kenneth I. Berger, Christina Lampe, Susanne G. Kircher, Paul J. Orchard, Rebecca Southall, Sarah Long, Stephen Sande, Jeffrey I. Gold
Safety and efficacy of vismodegib in patients with basal cell carcinoma nevus syndrome: pooled analysis of two trials
Anne Lynn S. Chang, Sarah T. Arron, Michael R. Migden, James A. Solomon, Simon Yoo, Bann-Mo Day, Edward F. McKenna, Aleksandar Sekulic
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
L. H. Koens, A. Kuiper, M. A. Coenen, J. W. J. Elting, J. J. de Vries, M. Engelen, J. H. T. M. Koelman, F. J. van Spronsen, J. M. Spikman, T. J. de Koning, M. A. J. Tijssen
The correlation between HTA recommendations and reimbursement status of orphan drugs in Europe
Paweł Kawalec, Anna Sagan, Andrzej Pilc
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
María L. Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca, Marta Llarena, Paula Sánchez-Pintos, Rosaura Leis, Alvaro Hermida
Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study
Justine Hugon-Rodin, Géraldine Lebègue, Stéphanie Becourt, Claude Hamonet, Anne Gompel
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
Panagiotis I. Sergouniotis, Stephanie J. Barton, Sarah Waller, Rahat Perveen, Jamie M. Ellingford, Christopher Campbell, Georgina Hall, Rachel L. Gillespie, Sanjeev S. Bhaskar, Simon C. Ramsden, Graeme C. Black, Simon C. Lovell
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A. Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, Aline Cano, Dries Dobbelaere, Anais Brassier, Karine Mention, Jean-Baptiste Arnoux, François Feillet, Brigitte Chabrol, Nathalie Guffon, Caroline Elie, Pascale de Lonlay
Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial
Nicolás Roberto Robles, Ramón Peces, Álvaro Gómez-Ferrer, Felipe Villacampa, Jose Luis Álvarez-Ossorio, Pedro Pérez-Segura, Juan Morote, Bernardo Herrera-Imbroda, Javier Nieto, Joaquín Carballido, Urbano Anido, Marian Valero, Cristina Meseguer, Roser Torra
Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec, Wojciech Mlynarski
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra
Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
Lauren Schwartz, Anthony Holland, Elisabeth Dykens, Theresa Strong, Elizabeth Roof, Jessica Bohonowych
Rett syndrome: a wide clinical and autonomic picture
G. Pini, S. Bigoni, L. Congiu, A. M. Romanelli, M. F. Scusa, P. Di Marco, A. Benincasa, P. Morescalchi, A. Ferlini, F. Bianchi, D. Tropea, M. Zappella
High attack frequency in patients with angioedema due to C1-inhibitor deficiency is a major determinant in switching to home therapy: a real-life observational study
Veronica Squeglia, Alessandro Barbarino, Maria Bova, Carmela Gravante, Angelica Petraroli, Giuseppe Spadaro, Massimo Triggiani, Arturo Genovese, Gianni Marone
Combined integrated protocol/basket trial design for a first-in-human trial
Ulla Derhaschnig, Jim Gilbert, Ulrich Jäger, Georg Böhmig, Georg Stingl, Bernd Jilma
The risks of overlooking the diagnosis of secreting pituitary adenomas
Thierry Brue, Frederic Castinetti
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza
Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS)
S. Somanadhan, P. J. Larkin
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert
Childhood-onset granulomatosis with polyangiitis and microscopic polyangiitis: systematic review and meta-analysis
Michele Iudici, Pierre Quartier, Benjamin Terrier, Luc Mouthon, Loïc Guillevin, Xavier Puéchal
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
Off-label use of orphan medicinal products: a Belgian qualitative study
Marc Dooms, David Cassiman, Steven Simoens
Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study
Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone, Martha Feucht
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan
Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Ichizo Nishino, Masashi Aoki
Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
Gene expression profiles and protein-protein interaction networks in amyotrophic lateral sclerosis patients with C9orf72 mutation
Meena Kumari Kotni, Mingzhu Zhao, Dong-Qing Wei
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bokenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin, Amira Davis, Georges Deschenes, Mattia Gentile, Mario Giordano, Andrew K. Gormley, Rajeshree Govender, Mark Joseph, Kory Keller, Evelyne Lerut, Elena Levtchenko, Laura Massella, Christy Mayfield, Behzad Najafian, David Parham, Jurgen Spranger, Peter Stenzel, Uluc Yis, Zhongxin Yu, Jonathan Zonana, Glenda Hendson, Cornelius F. Boerkoel
The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases
M. K. Javaid, L. Forestier-Zhang, L. Watts, A. Turner, C. Ponte, H. Teare, D. Gray, N. Gray, R. Popert, J. Hogg, J. Barrett, R. Pinedo-Villanueva, C. Cooper, R. Eastell, N. Bishop, R. Luqmani, P. Wordsworth, J. Kaye
Insights into rare diseases from social media surveys
William Davies
Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): a systematic literature review
Anke Wagner, Sara Yvonne Brucker, Esther Ueding, Dagmar Gröber-Grätz, Elisabeth Simoes, Katharina Rall, Andrea Kronenthaler, Norbert Schäffeler, Monika A. Rieger
Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial
R. J. Kuppens, E. F. Mahabier, N. E. Bakker, E. P. C. Siemensma, S. H. Donze, A. C. S. Hokken-Koelega
An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry
Len Woodward, Sally Johnson, Johan Vande Walle, Joran Beck, Christoph Gasteyger, Christoph Licht, Gema Ariceta
Current models of care for disorders of sex development – results from an International survey of specialist centres
Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S. Faisal Ahmed
Symmetrical acrokeratoderma: a case series in Indian patients
Keshavamurthy Vinay, Gitesh U. Sawatkar, Uma N. Saikia, Sunil Dogra
20-year follow-up study of Danish HHT patients—survival and causes of death
Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green
Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
Friederike Ehrhart, Susan L. M. Coort, Elisa Cirillo, Eric Smeets, Chris T. Evelo, Leopold M. G. Curfs
Ataxia telangiectasia: a review
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia
Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K. Javaid, Rafael Pinedo-Villanueva
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
Steven U. Walkley, Cristin D. Davidson, Jonathan Jacoby, Philip D. Marella, Elizabeth A. Ottinger, Christopher P. Austin, Forbes D. Porter, Charles H. Vite, Daniel S. Ory
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
Maria Salomon-Estebanez, Sarah E. Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E. Cosgrove, Mark J. Dunne, Indraneel Banerjee
Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review
Ghayath Janoudi, William Amegatse, Brendan McIntosh, Chander Sehgal, Trevor Richter
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort
Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn, Claire Bardel, Dominique Valeyre, A. Gouita, P. Chanez, E. Peyrat-Detis, G. Prevot, S. Diab, F. Prieur, M. Locatelli-Sanchez, M. Gaillot-Drevon, L. Kiakouama, C. Broussolle, L. Varron, A. Charron, J. Kuntz, K. Ledoux, M. C. Le Scanff, Bouaziz, M. Pavic, J. Ninet, J. F. Cordier, M. Vincent, M. Coudurier, F. Gagnadoux, F. Jounieaux, G. Terce, P. Diot, S. Marchand-Adams, H. Morel, S. Jouneau, L. Olivier-Faivre, J. Lacronique, K. Juvin, B. Crestani, M. Aubier, R. Borie, R. Roussel, C. Chapelon Abric, B. Hervier, J. C. Piette, T. Janssens, D. Saadoun, N. Nathan, A. Clément, J. P. Ducroix, C. Guillaumat, E. Watkin, M. Freynet, J. M. Naccache, Y. Uzunhan, N. Limal
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia
Alexandre J. Vivanti, Anne-Gael Cordier, Geneviève Baujat, Alexandra Benachi
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham, Monica Lamoureux, Sara D. Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl Greenberg, Robin Z. Hayeems, Shailly Jain-Ghai, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, John J. Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stockler, Yannis Trakadis, Sarah Wafa, Jagdeep Walia, Kumanan Wilson, Nataliya Yuskiv, Beth K. Potter
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature
Steven T. Merrill, Gary R. Nelson, Nicola Longo, Joshua L. Bonkowsky