Orphanet Journal Of Rare Diseases

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta

European principles of inhibitor management in patients with haemophilia

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis

Recent advances in methodology for clinical trials in small populations: the InSPiRe project

Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium