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