期刊
PRENATAL DIAGNOSIS
卷 22, 期 7, 页码 630-632出版社
JOHN WILEY & SONS LTD
DOI: 10.1002/pd.368
关键词
Niemann-Pick disease; prenatal diagnosis; sphingomyelinase; NPCl; NPC2; mutation analysis
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. Copyright (C) 2002 John Wiley Sons, Ltd.
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