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Article

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

Proceedings of the National Academy of Sciences of the United States of America - 1 May 1991

Levran O, Desnick R J, Schuchman E H

Abstract excerpt

Although the A and B subtypes of Niemann-Pick disease (NPD) both result from the deficient activity of acid sphingomyelinase (ASM; sphingomyelin cholinephosphohydrolase, EC 3.1.4.12) and the lysosomal accumulation of sphingomyelin, they have remarkably distinct phenotypes. Type A disease is a fatal neurodegenerative disorder of infancy, whereas type B disease has no neurologic manifestations and is characterized...

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Identifiers

PMID: 2023926
DOI: 10.1073/pnas.88.9.3748
PMCID: PMC51530

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