Orphanet Journal of Rare Diseases

Title Publication Date Language Citations
Niemann-Pick disease type C2010/06/03English748
Beta-thalassemia2010/05/21English693
Amyotrophic lateral sclerosis2009/02/03English645
Retinitis pigmentosa2006/10/11English545
Huntington's disease: a clinical review2010/12/01English538
Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis2007/07/26English493
The complete European guidelines on phenylketonuria: diagnosis and treatment2017/10/12English423
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia2014/09/02English396
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review2017/07/04English360
α-thalassaemia2010/05/28English346
Ataxia telangiectasia: a review2016/11/25English342
Familial adenomatous polyposis2009/10/12English315
Malignant hyperthermia: a review2015/08/04English314
Congenital hypothyroidism2010/06/10English313
Spinal muscular atrophy2011/11/02English307
Toxic epidermal necrolysis and Stevens-Johnson syndrome2010/12/01English304
Neurofibromatosis type 2 (NF2): A clinical and molecular review2009/06/19English302
Oculocutaneous albinism2007/11/02English300
The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review2017/04/26English291
Osteopetrosis2009/02/20English291
Osteosarcoma (Osteogenic sarcoma)2007/01/23English282
Anorectal malformations2007/07/26English281
Oesophageal atresia2007/05/11English273
Malignant hyperthermia2007/04/24English268
Cone rod dystrophies2007/02/01English264
Idiopathic pulmonary fibrosis2008/03/26English263
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)2008/11/25English251
Adaptive design methods in clinical trials – a review2008/05/02English247
Holoprosencephaly2007/02/02English239
McCune-Albright syndrome2008/05/19English235