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  1. Research

    Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

    A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...

    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 and Jean-Philippe Lacour

    Orphanet Journal of Rare Diseases 2017 12:119

    Published on: 28 June 2017

  2. Research

    Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

    PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early d...

    Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper and Maithé Tauber

    Orphanet Journal of Rare Diseases 2017 12:118

    Published on: 28 June 2017

  3. Research

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals e...

    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…

    Orphanet Journal of Rare Diseases 2017 12:121

    Published on: 28 June 2017

  4. Research

    Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics

    Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and...

    Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne and Wei Zheng

    Orphanet Journal of Rare Diseases 2017 12:120

    Published on: 28 June 2017

  5. Position statement

    Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

    Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there ar...

    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 and Simon A Jones

    Orphanet Journal of Rare Diseases 2017 12:117

    Published on: 26 June 2017

  6. Research

    Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung’s disease in newborns – a nationwide cohort study

    Hirschsprung’s disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung’s dise...

    Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård and Niels Qvist

    Orphanet Journal of Rare Diseases 2017 12:116

    Published on: 20 June 2017

  7. Research

    Do investors value the FDA orphan drug designation?

    The Orphan Drug Act is an important piece of legislation that uses financial incentives to encourage the development of drugs that treat rare diseases. This analysis studies the effects of a portion of the Orp...

    Kathleen L. Miller

    Orphanet Journal of Rare Diseases 2017 12:114

    Published on: 19 June 2017

  8. Research

    Prenatal brain disruption in isolated sulfite oxidase deficiency

    Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs ra...

    Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen and I-Chun Lee

    Orphanet Journal of Rare Diseases 2017 12:115

    Published on: 19 June 2017

  9. Review

    Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders

    Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cogn...

    Kyeongsoon Kim, Hynda K. Kleinman, Hahn-Jun Lee and Kalipada Pahan

    Orphanet Journal of Rare Diseases 2017 12:113

    Published on: 17 June 2017

  10. Review

    Open issues in Mucopolysaccharidosis type I-Hurler

    Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...

    Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli and Maurizio Scarpa

    Orphanet Journal of Rare Diseases 2017 12:112

    Published on: 15 June 2017

  11. Research

    Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

    Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease...

    Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich and Sven F. Garbade

    Orphanet Journal of Rare Diseases 2017 12:111

    Published on: 15 June 2017

  12. Position statement

    International physician survey on management of FOP: a modified Delphi study

    Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also...

    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 and Frederick S. Kaplan

    Orphanet Journal of Rare Diseases 2017 12:110

    Published on: 12 June 2017

  13. Research

    Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

    Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans. The pathological accumul...

    Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin and Tai-Tong Wong

    Orphanet Journal of Rare Diseases 2017 12:109

    Published on: 8 June 2017

  14. Research

    Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism

    Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore, patients are often hospitalized long-term or have ...

    Heike Corda, Sebastian Kummer, Alena Welters, Norbert Teig, Dirk Klee, Ertan Mayatepek and Thomas Meissner

    Orphanet Journal of Rare Diseases 2017 12:108

    Published on: 2 June 2017

  15. Research

    The cost of severe haemophilia in Europe: the CHESS study

    Severe haemophilia is associated with major psychological and economic burden for patients, caregivers, and the wider health care system. This burden has been quantified and documented for a number of European...

    Jamie O’Hara, David Hughes, Charlotte Camp, Tom Burke, Liz Carroll and Daniel-Anibal Garcia Diego

    Orphanet Journal of Rare Diseases 2017 12:106

    Published on: 31 May 2017

  16. Letter to the Editor

    The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital

    A new approach has been designed at the Bambino Gesù Children’s Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through tutor-assisted work activities. Williams Syndrome is ch...

    Francesca De Lorenzo, Marina Macchiaiolo, Carla Maria Carlevaris and Andrea Bartuli

    Orphanet Journal of Rare Diseases 2017 12:107

    Published on: 31 May 2017

  17. Research

    Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...

    Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu and Xue Zhang

    Orphanet Journal of Rare Diseases 2017 12:104

    Published on: 30 May 2017

  18. Letter to the Editor

    PIGO deficiency: palmoplantar keratoderma and novel mutations

    Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...

    Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro and Kathleen Freson

    Orphanet Journal of Rare Diseases 2017 12:101

    Published on: 25 May 2017

  19. Research

    Whipple’s disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure

    Whipple’s disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA).

    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 and Nils Venhoff

    Orphanet Journal of Rare Diseases 2017 12:99

    Published on: 25 May 2017

  20. Position statement

    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

    In planning a clinical trial for demonstrating the efficacy of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients we had to discuss the need for a randomized controlled trial part...

    Florian Lasch, Kristina Weber, Mwe Mwe Chao and Armin Koch

    Orphanet Journal of Rare Diseases 2017 12:102

    Published on: 25 May 2017

  21. Research

    Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity

    Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the f...

    Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu and Weihong Zhang

    Orphanet Journal of Rare Diseases 2017 12:103

    Published on: 25 May 2017

  22. Review

    Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

    Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capa...

    Cara A. Timpani, Alan Hayes and Emma Rybalka

    Orphanet Journal of Rare Diseases 2017 12:100

    Published on: 25 May 2017

  23. Research

    Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma

    Known as solid tumors of intermediate malignant potential, most inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is en-bloc resected. However, in some cases, the tumors have recurr...

    Quan Jiang, Han-Xing Tong, Ying-Yong Hou, Yong Zhang, Jing-Lei Li, Yu-Hong Zhou, Jing Xu, Jiong-Yuan Wang and Wei-Qi Lu

    Orphanet Journal of Rare Diseases 2017 12:97

    Published on: 23 May 2017

  24. Research

    Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

    This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...

    D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley and A. Quartel

    Orphanet Journal of Rare Diseases 2017 12:98

    Published on: 23 May 2017

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