The usefulness of bone marrow aspiration in the diagnosis of Niemann–Pick disease type C in infantile liver disease

Background: Niemann–Pick disease type C (NPC) is a fatal, autosomal recessive lysosomal storage disease which may present in infancy with cholestatic jaundice and/or hepatosplenomegaly. In cholestatic patients with splenomegaly, a bone marrow aspirate has been advocated as a relatively accessible ti...

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