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Article

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Clinical genetics - 1 Oct 2013

Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala L A, Arslan N, Bermejo N, Guerrero C, Perez de Soto I, Villalón L, Giraldo P, Pocovi M

Abstract excerpt

Niemann-Pick disease (NPD) types A and B are autosomal, recessively inherited, lysosomal storage disorders caused by deficient activity of acid sphingomyelinase (E.C. 3.1.4.12) because of mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Here, we present the molecular analysis and clinical characteristics of 15 NPD type A and B patients. Sequencing the SMDP1 gene revealed eight previously described...

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Identifiers

PMID: 23252888
DOI: 10.1111/cge.12076

Genes

SMPD1

Variants

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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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