Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant

Our findings represent the first clinical and molecular characterization of alpha-mannosidosis in Iraqi children and reveal previously unreported genetic features in this population. It highlights that clinical and laboratory findings in our patients were largely consistent with previously published regional and international data. It demonstrates notable diagnostic delay and identified novel variants, expanding the mutational spectrum associated with the disease.

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Publication Details

Journal
Molecular Genetics and Metabolism Reports
Published
2026-01-09
DOI
https://doi.org/10.1016/j.ymgmr.2025.101282
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant

Saja Baheer Abdulwahhab, Ikhlas Ali Ahmed, Hala Sameh Arif, Nebal Waill Saadi et al.
Molecular Genetics and Metabolism Reports
Lysosomal Storage Disorders Research
article

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant

Saja Baheer Abdulwahhab, Ikhlas Ali Ahmed, Hala Sameh Arif, Nebal Waill Saadi, Marwa Sabah Alothman, Mays Riyadh Al Tai
article en

Abstract

Our findings represent the first clinical and molecular characterization of alpha-mannosidosis in Iraqi children and reveal previously unreported genetic features in this population. It highlights that clinical and laboratory findings in our patients were largely consistent with previously published regional and international data. It demonstrates notable diagnostic delay and identified novel variants, expanding the mutational spectrum associated with the disease.

Molecular Genetics and Metabolism ReportsVol. 46
University of Baghdad (IQ), Baghdad Medical City (IQ), Nahrain University (IQ)
Partnerships for the goals
Openalex Percentile: Top 93%
Lysosomal Storage Disorders Research
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