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Niemann-Pick disease

1 Jan 2000

Abstract excerpt

Niemann-Pick disease, originally defined in terms of its histology as a reticuloendotheliosis, is now subdivided on the basis of biochemical and molecular criteria into two separate classes. This categorization has been aided by the discovery of the genes for acid sphingomyelinase, deficient in types A and B, and for the NPC-1 protein, deficient in types C and D, and the finding of mutations in each. Animal...

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PMID: 10608504
DOI: 10.1097/00062752-200001000-00009

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