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Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center

Objectives: Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by...

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Principais autores: Rabab Farhan, Mays Al-Tai, Ikhlas Ali Ahmed, Adel Kareem, Saja Baheer, Bassam Musa Sadik, Matheel Mohamed Jafar, Marwa Sabah Alothman
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2026-09-01
Serier:Molecular Genetics and Metabolism Reports
Fag:
Acid sphingomyelinase deficiency
Diagnosis
Genotype-phenotype correlation
Niemann-Pick disease types A/B
SMPD1
Online adgang:http://www.sciencedirect.com/science/article/pii/S2214426926000406
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