Prenatal diagnosis of Niemann–Pick diseases types A,B and C |
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| Authors: | Marie T Vanier |
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| Institution: | INSERM U189, Faculté de Médecine Lyon-Sud, 69921 Oullins Cedex and Laboratoire Fondation Gillet-Mérieux, Centre Hospitalier Lyon-Sud, 69310 Pierre-Bénite, France |
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| 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. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | Niemann–Pick disease prenatal diagnosis sphingomyelinase NPC1 NPC2 mutation analysis |
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