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  1. Research

    Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

    The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain.

    Julio López-Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Eduardo Tizzano, Mark Sefton and Juan Oliva-Moreno

    Orphanet Journal of Rare Diseases 2017 12:141

    Published on: 18 August 2017

  2. Position statement

    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

    A number of papers have proposed or evaluated the delayed-start design as an alternative to the standard two-arm parallel group randomized clinical trial (RCT) design in the field of rare disease. However the ...

    Loukia M. Spineli, Eva Jenz, Anika Großhennig and Armin Koch

    Orphanet Journal of Rare Diseases 2017 12:140

    Published on: 17 August 2017

  3. Research

    Constipation in adults with neurofibromatosis type 1

    Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and p...

    Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov and Annette Haagerup

    Orphanet Journal of Rare Diseases 2017 12:139

    Published on: 16 August 2017

  4. Research

    Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective

    Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studi...

    A. Crucean, A. Alqahtani, D. J. Barron, W. J. Brawn, R. V. Richardson, J. O’Sullivan, R. H. Anderson, D. J. Henderson and B. Chaudhry

    Orphanet Journal of Rare Diseases 2017 12:138

    Published on: 10 August 2017

  5. Research

    Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

    Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular ...

    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 and Roseli O. S. Sarni

    Orphanet Journal of Rare Diseases 2017 12:136

    Published on: 4 August 2017

  6. Letter to the Editor

    Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive l...

    Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom and Matthis Synofzik

    Orphanet Journal of Rare Diseases 2017 12:135

    Published on: 1 August 2017

  7. Letter to the Editor

    A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

    Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is cu...

    Kathryn R. Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A. Hunter, Meagan Cross and Matthew I. Bellgard

    Orphanet Journal of Rare Diseases 2017 12:134

    Published on: 1 August 2017

  8. Research

    Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience

    Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case ser...

    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…

    Orphanet Journal of Rare Diseases 2017 12:133

    Published on: 25 July 2017

  9. Research

    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

    Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was la...

    Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan and Rani H. Singh

    Orphanet Journal of Rare Diseases 2017 12:132

    Published on: 19 July 2017

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

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