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  • Title: Prenatal diagnosis of Niemann-Pick diseases types A, B and C.
    Author: Vanier MT.
    Journal: Prenat Diagn; 2002 Jul; 22(7):630-2. PubMed ID: 12124701.
    Abstract:
    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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