Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants

This first Iraqi cohort expands the <i>GALNS</i> variant spectrum and highlights persistent diagnostic delays despite early clinical manifestations. Early molecular confirmation, establishment of national registries, and multidisciplinary surveillance are essential to reduce long-term morbidity.

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Publication Details

Journal
Molecular Genetics and Metabolism Reports
Published
2025-11-27
DOI
https://doi.org/10.1016/j.ymgmr.2025.101281
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants

Rabab Farhan Thejeal, Saja Baheer Abdul Wahhab
Molecular Genetics and Metabolism Reports
Lysosomal Storage Disorders Research
article

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants

Rabab Farhan Thejeal, Saja Baheer Abdul Wahhab
article en

Abstract

This first Iraqi cohort expands the <i>GALNS</i> variant spectrum and highlights persistent diagnostic delays despite early clinical manifestations. Early molecular confirmation, establishment of national registries, and multidisciplinary surveillance are essential to reduce long-term morbidity.

Molecular Genetics and Metabolism ReportsVol. 45
Baghdad Medical City (IQ)
Openalex Percentile: Top 54%
Lysosomal Storage Disorders Research
DOIOpen Access PDFOpenAlex
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Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants — Rabab Farhan Thejeal, Saja Baheer Abdul Wahhab · Molecular Genetics and Metabolism Reports (2025) | TGRS Research Map | TGRS