Orphanet Journal of Rare Diseases

Title Publication Date Language Citations
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study2012/01/01English96
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa2014/01/01English96
Behçet's disease2012/01/01English95
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study2013/01/01English94
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure2014/01/01English93
Neuroacanthocytosis Syndromes2011/01/01English92
Interstitial lung diseases in children2010/01/01English90
Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries2013/01/01English90
Niemann-Pick disease type C symptomatology: an expert-based clinical description2013/01/01English86
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy2015/01/01English85
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives2012/01/01English85
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases2013/01/01English84
Socioeconomic burden of hereditary angioedema: results from the hereditary angioedema burden of illness study in Europe2014/01/01English84
The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients2012/01/01English83
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe2011/01/01English82
Natural history of Barth syndrome: a national cohort study of 22 patients2013/01/01English80
Congenitally corrected transposition2011/01/01English80
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 12012/01/01English77
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ22013/01/01English76
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies2012/01/01English75
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy2011/01/01English73
Experimental designs for small randomised clinical trials: an algorithm for choice2013/01/01English72
Aetiology of biliary atresia: what is actually known?2013/01/01English71
Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey2014/01/01English70
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients2011/01/01English69
Laryngo-tracheo-oesophageal clefts2011/01/01English68
Cystinuria: an inborn cause of urolithiasis2012/01/01English67
Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code2011/01/01English67
A national internet-linked based database for pediatric interstitial lung diseases: the French network2012/01/01English67
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient2012/01/01English65