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  1. Research

    Multifocal gastric adenocarcinoma in a patient with LRBA deficiency

    Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a ca...

    Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino and Magdalena Avbelj Stefanija

    Orphanet Journal of Rare Diseases 2017 12:131

    Published on: 18 July 2017

  2. Review

    An update on the use of biologic therapies in the management of uveitis in Behçet’s disease: a comprehensive review

    Behçet’s disease (BD) is a systemic vasculitis characterised by a relapsing remitting course, affecting multiple organ systems. In the eye, it is a cause of potentially blinding inflammation in the form of uve...

    Thomas W. McNally, Erika M. Damato, Philip I. Murray, Alastair K. Denniston and Robert J. Barry

    Orphanet Journal of Rare Diseases 2017 12:130

    Published on: 17 July 2017

  3. Research

    Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy

    Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include rapidly progressive vision loss with abnormal electrophysiolo...

    Katherine Boudreault, Sally Justus, Jesse D. Sengillo, Kaspar Schuerch, Winston Lee, Thiago Cabral and Stephen H. Tsang

    Orphanet Journal of Rare Diseases 2017 12:129

    Published on: 15 July 2017

  4. Review

    Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology, demographics and risk factors

    Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare oculorenal inflammatory condition that was first described in 1975. In 2001 a major review identified 133 cases in the world literature and pr...

    Linda O. Okafor, Peter Hewins, Philip I. Murray and Alastair K. Denniston

    Orphanet Journal of Rare Diseases 2017 12:128

    Published on: 14 July 2017

  5. Research

    Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study

    Advances in medical, interventional and surgical treatment have increased average life expectancy of patients with congenital heart defects. As a result a new group of adult patients with congenital cardiac de...

    Dieter Benninghoven, Denise Hamann, Yskert von Kodolitsch, Meike Rybczynski, Julia Lechinger, Friedrich Schroeder, Marina Vogler and Eike Hoberg

    Orphanet Journal of Rare Diseases 2017 12:127

    Published on: 12 July 2017

  6. Research

    ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

    Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the...

    Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli and Mauro Magnani

    Orphanet Journal of Rare Diseases 2017 12:126

    Published on: 5 July 2017

  7. Research

    Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

    Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To ac...

    Li Ou, Michael J. Przybilla and Chester B. Whitley

    Orphanet Journal of Rare Diseases 2017 12:125

    Published on: 4 July 2017

  8. Review

    Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

    Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable prese...

    Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook and Hanns Lochmüller

    Orphanet Journal of Rare Diseases 2017 12:124

    Published on: 4 July 2017

  9. Research

    Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

    Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies fou...

    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 and Valérie Cormier-Daire

    Orphanet Journal of Rare Diseases 2017 12:123

    Published on: 30 June 2017

  10. Research

    Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

    Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (...

    Virginia Albiñana, Rosa María Jiménez Escribano, Isabel Soler, Luis Rodríguez Padial, Lucia Recio-Poveda, Karina Villar Gómez de las Heras and Luisa María Botella

    Orphanet Journal of Rare Diseases 2017 12:122

    Published on: 29 June 2017

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

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