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Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).

Gene - 15 Jul 2020

Al-Eitan Laith, Alqa'qa' Kifah, Amayreh Wajdi, Aljamal Hanan, Khasawneh Rame, Al-Zoubi Batool, Okour Israa, Haddad Amany, Haddad Yazan, Haddad Hazem

Abstract excerpt

Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal system. It is caused by different mutations in SMPD1 gene that result in reduction or complete absence of acid sphingomyelinase activity in the cells....

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PMID: 32311413
DOI: 10.1016/j.gene.2020.144683

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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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