[Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia]
{{output}}
Gaucher disease is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of acid beta-glucocerebrosidase (Enzyme Commission 3.2.1.45). Its clinical presentation is polymorphic, dominated by hepatosplenomegaly and cytopenias, and may mim... ...
