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Article

Niemann-Pick diseases.

Handbook of clinical neurology - 1 Jan 2013

Vanier Marie T

Abstract excerpt

The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in either the NPC1 or the NPC2 gene. Both Niemann-Pick diseases have...

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Identifiers

PMID: 23622394
DOI: 10.1016/B978-0-444-59565-2.00041-1

Genes

NPC1
NPC2
SMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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