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  1. Research

    Vinblastine chemotherapy in adult patients with langerhans cell histiocytosis: a multicenter retrospective study

    Vinblastine is the standard treatment for children with Langerhans cell histiocytosis (LCH). Whether this treatment could be extended to adults with LCH is questionable. This retrospective multicenter study in...

    Abdellatif Tazi, Gwenaël Lorillon, Julien Haroche, Antoine Neel, Stéphane Dominique, Achille Aouba, Jean-David Bouaziz, Constance de Margerie-Melon, Emmanuelle Bugnet, Vincent Cottin, Thibault Comont, Christian Lavigne, Jean-Emmanuel Kahn, Jean Donadieu and Sylvie Chevret

    Orphanet Journal of Rare Diseases 2017 12:95

    Published on: 22 May 2017

  2. Research

    Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

    Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia caused by excess insulin secretion and associated with adverse neurodevelopment in a third of children. The Vineland Adaptive Behavior Scal...

    Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, Hannah Collins, Lindsey Rigby, Mars Skae, Raja Padidela, Stewart Rust, Mark Dunne, Karen Cosgrove, Indraneel Banerjee and Jacqueline Nicholson

    Orphanet Journal of Rare Diseases 2017 12:96

    Published on: 22 May 2017

  3. Research

    Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

    In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim ...

    Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti and Muriel De La Dure Molla

    Orphanet Journal of Rare Diseases 2017 12:94

    Published on: 19 May 2017

  4. Research

    Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia

    Around 47–74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 seque...

    M. M. Serra, C. H. Besada, A. Cabana Cal, A. Saenz, C. V. Stefani, D. Bauso, A. B. Golimstok, J. C. Bandi, D. H. Giunta and C. M. Elizondo

    Orphanet Journal of Rare Diseases 2017 12:92

    Published on: 18 May 2017

  5. Review

    Thalassemias in South Asia: clinical lessons learnt from Bangladesh

    Thalassemias are emerging as a global public health concern. Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likel...

    Mohammad Sorowar Hossain, Enayetur Raheem, Tanvira Afroze Sultana, Shameema Ferdous, Nusrat Nahar, Sazia Islam, Mohammad Arifuzzaman, Mohammad Abdur Razzaque, Rabiul Alam, Sonia Aziz, Hazera Khatun, Abdur Rahim and Manzur Morshed

    Orphanet Journal of Rare Diseases 2017 12:93

    Published on: 18 May 2017

  6. Research

    Quantification of gait in mitochondrial m.3243A > G patients: a validation study

    More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abn...

    Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen and Jan Smeitink

    Orphanet Journal of Rare Diseases 2017 12:91

    Published on: 15 May 2017

  7. Research

    Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

    A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relativ...

    Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli…

    Orphanet Journal of Rare Diseases 2017 12:90

    Published on: 12 May 2017

  8. Research

    Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

    Inexpensive medicines with a long history of use may currently be prescribed off-label for rare indications. Reimbursement is at the discretion of health insurance companies, and may be unpredictable. The example...

    Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren and Martina C. Cornel

    Orphanet Journal of Rare Diseases 2017 12:88

    Published on: 12 May 2017

  9. Research

    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

    Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been des...

    Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi…

    Orphanet Journal of Rare Diseases 2017 12:89

    Published on: 12 May 2017

  10. Letter to the Editor

    Probable DRESS syndrome induced by IL-1 inhibitors

    Interleukin (IL)-1 inhibitors have been increasingly used for treating autoinflammatory diseases during the last 10 years, but the spectrum of their possible side effects is not yet fully known. Here, we bring...

    L. Polivka, J. S. Diana, A. Soria, C. Bodemer, P. Quartier, S. Fraitag and B. Bader-Meunier

    Orphanet Journal of Rare Diseases 2017 12:87

    Published on: 11 May 2017

  11. Review

    Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

    Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a compreh...

    Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe…

    Orphanet Journal of Rare Diseases 2017 12:86

    Published on: 11 May 2017

  12. Review

    Pseudoxanthoma elasticum

    Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that ...

    Dominique P. Germain

    Orphanet Journal of Rare Diseases 2017 12:85

    Published on: 10 May 2017

  13. Research

    Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

    The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosi...

    Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga…

    Orphanet Journal of Rare Diseases 2017 12:84

    Published on: 3 May 2017

  14. Research

    Initiating an undiagnosed diseases program in the Western Australian public health system

    New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as ...

    Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster…

    Orphanet Journal of Rare Diseases 2017 12:83

    Published on: 3 May 2017

  15. Review

    Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfa...

    Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles and David A. H. Whiteman

    Orphanet Journal of Rare Diseases 2017 12:82

    Published on: 2 May 2017

  16. Research

    Determinants of impaired quality of life in patients with fibrous dysplasia

    Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with ...

    Bas C. J. Majoor, Cornelie D. Andela, Jens Bruggemann, Michiel A. J. van de Sande, Ad A. Kaptein, Neveen A. T. Hamdy, P. D. Sander Dijkstra and Natasha M. Appelman-Dijkstra

    Orphanet Journal of Rare Diseases 2017 12:80

    Published on: 27 April 2017

  17. Review

    Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

    Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired q...

    Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble and Kaustuv Bhattacharya

    Orphanet Journal of Rare Diseases 2017 12:78

    Published on: 26 April 2017

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

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