Prenatal diagnosis of Niemann–Pick diseases types A, B and C

Abstract excerpt

Prenatal diagnosis of Niemann-Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann-Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance.

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