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

Marie T Vanier

Journal: Prenatal diagnosis 2003;22(7):630-2

PMID: 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.

Address: INSERM U189, Faculté de Médecine Lyon-Sud, 69921 Oullins Cedex, France. [email protected]

DOI: 10.1002/pd.368

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MeSH Terms: Adult, Carrier Proteins, Cells, Cultured, DNA Mutational Analysis, Female, Glycoproteins, Humans, Intracellular Signaling Peptides and Proteins, Membrane Glycoproteins, Niemann-Pick C1 Protein, Niemann-Pick Diseases, Pregnancy, Prenatal Diagnosis, Sphingomyelin Phosphodiesterase, Vesicular Transport Proteins