Abstract:BackgroundRegisters are an effective tool for tracing the dynamics of patients with rare pathologies.ObjectiveOur aim was to examine the demographic, clinical and genetic features of children with Gaucher disease in Russia.MethodsWe held a retrospective survey of the paediatric register data with regard to children suffering from Gaucher disease. The period of data accounting was from 2006 to 2016. Results: 115 children with Gaucher disease aged from 3 months to 17 years (the median age of diagnosis is 5 years… Show more
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