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Article

Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.

Wiener klinische Wochenschrift - 14 Feb 1997

Vanier M T

Abstract excerpt

The eponym "Niemann-Pick disease" includes two metabolically distinct entities. Niemann-Pick type C (NPC) is characterized by unique abnormalities of intracellular transport of exogenous cholesterol with sequestration of unesterified cholesterol in lysosomes, while Niemann-Pick types A and B are acid sphingomyelinase deficiencies resulting from mutations in the gene coding for lysosomal sphingomyelinase. Current...

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PMID: 9060145

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