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Prenatal diagnosis of Niemann–Pick diseases types A, B and C
Author(s) -
Vanier Marie T.
Publication year - 2002
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.368
Subject(s) - niemann–pick disease , npc1 , prenatal diagnosis , niemann–pick disease, type c , disease , acid sphingomyelinase , medicine , sphingomyelin , intracellular , sphingomyelin phosphodiesterase , fetus , biology , cholesterol , pathology , pregnancy , genetics , endosome
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 © 2002 John Wiley & Sons, Ltd.