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  1. 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

  2. Letter to the Editor

    The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital

    A new approach has been designed at the Bambino Gesù Children’s Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through tutor-assisted work activities. Williams Syndrome is ch...

    Francesca De Lorenzo, Marina Macchiaiolo, Carla Maria Carlevaris and Andrea Bartuli

    Orphanet Journal of Rare Diseases 2017 12:107

    Published on: 31 May 2017

  3. Research

    Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...

    Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu and Xue Zhang

    Orphanet Journal of Rare Diseases 2017 12:104

    Published on: 30 May 2017

  4. Letter to the Editor

    PIGO deficiency: palmoplantar keratoderma and novel mutations

    Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...

    Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro and Kathleen Freson

    Orphanet Journal of Rare Diseases 2017 12:101

    Published on: 25 May 2017

  5. Research

    Whipple’s disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure

    Whipple’s disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA).

    Cornelia Glaser, Siegbert Rieg, Thorsten Wiech, Christine Scholz, Dominique Endres, Oliver Stich, Peter Hasselblatt, Walter Geißdörfer, Christian Bogdan, Annerose Serr, Georg Häcker, Reinhard E. Voll, Jens Thiel and Nils Venhoff

    Orphanet Journal of Rare Diseases 2017 12:99

    Published on: 25 May 2017

  6. Position statement

    A plea to provide best evidence in trials under sample-size restrictions: the example of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients

    In planning a clinical trial for demonstrating the efficacy of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients we had to discuss the need for a randomized controlled trial part...

    Florian Lasch, Kristina Weber, Mwe Mwe Chao and Armin Koch

    Orphanet Journal of Rare Diseases 2017 12:102

    Published on: 25 May 2017

  7. Research

    Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity

    Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the f...

    Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu and Weihong Zhang

    Orphanet Journal of Rare Diseases 2017 12:103

    Published on: 25 May 2017

  8. Review

    Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

    Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capa...

    Cara A. Timpani, Alan Hayes and Emma Rybalka

    Orphanet Journal of Rare Diseases 2017 12:100

    Published on: 25 May 2017

  9. Research

    Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma

    Known as solid tumors of intermediate malignant potential, most inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is en-bloc resected. However, in some cases, the tumors have recurr...

    Quan Jiang, Han-Xing Tong, Ying-Yong Hou, Yong Zhang, Jing-Lei Li, Yu-Hong Zhou, Jing Xu, Jiong-Yuan Wang and Wei-Qi Lu

    Orphanet Journal of Rare Diseases 2017 12:97

    Published on: 23 May 2017

  10. Research

    Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

    This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...

    D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley and A. Quartel

    Orphanet Journal of Rare Diseases 2017 12:98

    Published on: 23 May 2017

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

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