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Article

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

European journal of human genetics : EJHG - 1 Feb 2016

Acuña Mariana, Martínez Pablo, Moraga Carol, He Xingxuan, Moraga Mauricio, Hunter Bessie, Nuernberg Peter, Gutiérrez Rodrigo A, González Mauricio, Schuchman Edward H, Santos José Luis, Miquel Juan Francisco, Mabe Paulina, Zanlungo Silvana

Abstract excerpt

Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase (ASM) activity. While numerous variants causing NPDB have been described, only a small number have been studied in any detail. Herein, we describe the frequency of the p.(Ala359Asp) variant in the...

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Identifiers

PMID: 25920558
DOI: 10.1038/ejhg.2015.89
PMCID: PMC4717211

Genes

SMPD1

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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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