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Article

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Journal of inherited metabolic disease - 1 Oct 2007

Schuchman E H

Abstract excerpt

Patients with types A and B Niemann-Pick disease (NPD) have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile, neurological form that results in death by 3 years of age (type A NPD) to the non-neurological form (type B NPD) that is compatible with survival into adulthood. Intermediate cases also have been reported, and the disease is...

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Source

Identifiers

PMID: 17632693
DOI: 10.1007/s10545-007-0632-9

Genes

SMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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