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  1. Review

    The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review

    Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidem...

    S. Ryder, R. M. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, M. Jain and J. Kleijnen

    Orphanet Journal of Rare Diseases 2017 12:79

    Published on: 26 April 2017

  2. Research

    Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

    Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic moveme...

    Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker and Inga Harting

    Orphanet Journal of Rare Diseases 2017 12:77

    Published on: 24 April 2017

  3. Research

    Determinants of orphan drugs prices in France: a regression analysis

    The introduction of the orphan drug legislation led to the increase in the number of available orphan drugs, but the access to them is often limited due to the high price. Social preferences regarding funding ...

    Daria Korchagina, Aurelie Millier, Anne-Lise Vataire, Samuel Aballea, Bruno Falissard and Mondher Toumi

    Orphanet Journal of Rare Diseases 2017 12:75

    Published on: 21 April 2017

  4. Research

    Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy

    Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrati...

    Michael G. Smith, Julie Royer, Joshua Mann, Suzanne McDermott and Rodolfo Valdez

    Orphanet Journal of Rare Diseases 2017 12:76

    Published on: 21 April 2017

  5. Position statement

    Graves’ orbitopathy as a rare disease in Europe: a European Group on Graves’ Orbitopathy (EUGOGO) position statement

    Graves’ orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence o...

    P. Perros, L. Hegedüs, L. Bartalena, C. Marcocci, G. J. Kahaly, L. Baldeschi, M. Salvi, J. H. Lazarus, A. Eckstein, S. Pitz, K. Boboridis, P. Anagnostis, G. Ayvaz, A. Boschi, T. H. Brix, N. Currò…

    Orphanet Journal of Rare Diseases 2017 12:72

    Published on: 20 April 2017

  6. Research

    Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method

    Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the s...

    Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza and Carlos R. R. Carvalho

    Orphanet Journal of Rare Diseases 2017 12:74

    Published on: 20 April 2017

  7. Research

    Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a ...

    Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg…

    Orphanet Journal of Rare Diseases 2017 12:73

    Published on: 20 April 2017

  8. Research

    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

    Patients’ stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restitution (expecta...

    Rebecca C. Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R. Hooper and Vandana Shashi

    Orphanet Journal of Rare Diseases 2017 12:71

    Published on: 17 April 2017

  9. Review

    Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

    Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues.

    Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi and Marco Crimi

    Orphanet Journal of Rare Diseases 2017 12:69

    Published on: 11 April 2017

  10. Review

    Cardiac pathology in spinal muscular atrophy: a systematic review

    Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearl...

    C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg and W. L. van der Pol

    Orphanet Journal of Rare Diseases 2017 12:67

    Published on: 11 April 2017

  11. Research

    Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

    Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare dise...

    Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard and Elizabeth J Elliott

    Orphanet Journal of Rare Diseases 2017 12:68

    Published on: 11 April 2017

  12. Research

    Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

    Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) ...

    Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran and Tahir Sultan Shamsi

    Orphanet Journal of Rare Diseases 2017 12:66

    Published on: 7 April 2017

  13. Review

    Xeroderma pigmentosum-Cockayne syndrome complex

    Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throug...

    Valerie Natale and Hayley Raquer

    Orphanet Journal of Rare Diseases 2017 12:65

    Published on: 4 April 2017

  14. Research

    Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen

    In the European Union (EU) and United States (US), specific regulations have been released to provide incentives to develop and sell orphan medicinal products.

    Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi and Adriana Ceci

    Orphanet Journal of Rare Diseases 2017 12:64

    Published on: 3 April 2017

  15. Letter to the Editor

    7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants

    Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links ...

    Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan and Claire L. Shovlin

    Orphanet Journal of Rare Diseases 2017 12:60

    Published on: 28 March 2017

  16. Letter to the Editor

    Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction

    Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically ...

    Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang and Wei Cai

    Orphanet Journal of Rare Diseases 2017 12:62

    Published on: 28 March 2017

  17. Letter to the Editor

    Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

    Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most com...

    Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu and Shunying Zhao

    Orphanet Journal of Rare Diseases 2017 12:58

    Published on: 21 March 2017

  18. Research

    Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

    Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produc...

    Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C. Lemos, Vassos Neocleous, Marek Niedziela…

    Orphanet Journal of Rare Diseases 2017 12:57

    Published on: 20 March 2017

  19. Research

    An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

    With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.T...

    M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie and S.F. Ahmed

    Orphanet Journal of Rare Diseases 2017 12:56

    Published on: 20 March 2017

  20. Review

    A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever

    Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians’ def...

    Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano and Isabelle Koné-Paut

    Orphanet Journal of Rare Diseases 2017 12:54

    Published on: 16 March 2017

  21. Research

    Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

    With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted earl...

    Anne Aabom, Klaus E. Andersen, Christina Fagerberg, Niels Fisker, Marianne A. Jakobsen and Anette Bygum

    Orphanet Journal of Rare Diseases 2017 12:55

    Published on: 16 March 2017

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