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  1. Research

    The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study

    Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaem...

    Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki and Handrean Soran

    Orphanet Journal of Rare Diseases 2017 12:156

    Published on: 19 September 2017

  2. Research

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

    We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation betwe...

    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 and Mercedes Serrano

    Orphanet Journal of Rare Diseases 2017 12:155

    Published on: 15 September 2017

  3. Review

    Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

    Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conduc...

    Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe and Sian Taylor-Phillips

    Orphanet Journal of Rare Diseases 2017 12:154

    Published on: 11 September 2017

  4. Letter to the Editor

    Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

    Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...

    Marco Ritelli, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Piergiacomo Calzavara-Pinton and Marina Colombi

    Orphanet Journal of Rare Diseases 2017 12:153

    Published on: 7 September 2017

  5. Research

    Fabry disease and incidence of cancer

    Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, i...

    Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami and Derralynn Hughes

    Orphanet Journal of Rare Diseases 2017 12:150

    Published on: 6 September 2017

  6. Research

    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

    Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to...

    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…

    Orphanet Journal of Rare Diseases 2017 12:151

    Published on: 6 September 2017

  7. Research

    Prevalence of Amyloidosis in Korea

    The aim of this study was to assess in amyloidosis prevalence in Korea between 2006 and 2015.

    Su Ra Seo, Shin Yi Jang, Ga Yeon Lee, Bareun Choi, Heeran Chun, Eun Jeong Cho and Sung-il Cho

    Orphanet Journal of Rare Diseases 2017 12:152

    Published on: 6 September 2017

  8. Research

    Chronic pain in Gaucher disease: skeletal or neuropathic origin?

    Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considere...

    Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra and Bruno Bembi

    Orphanet Journal of Rare Diseases 2017 12:148

    Published on: 31 August 2017

  9. Research

    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

    Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopat...

    Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura and Ichizo Nishino

    Orphanet Journal of Rare Diseases 2017 12:149

    Published on: 31 August 2017

  10. Review

    Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

    Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes ...

    Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat and Alexandre Méjat

    Orphanet Journal of Rare Diseases 2017 12:147

    Published on: 30 August 2017

  11. Research

    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

    Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme re...

    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 and Liron Walsh

    Orphanet Journal of Rare Diseases 2017 12:144

    Published on: 24 August 2017

  12. Research

    What can the CF registry tell us about rare CFTR-mutations? A Belgian study

    CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability i...

    E. De Wachter, M. Thomas, S. S. Wanyama, S. Seneca and A. Malfroot

    Orphanet Journal of Rare Diseases 2017 12:142

    Published on: 22 August 2017

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

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