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

Vanier Marie T. | Zendy

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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.

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