Evidence map›Paper›PMID 41399535›Full record

ArticleMolecular genetics and metabolism reports2025

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

Saja Baheer Abdul Wahhab, Rabab Farhan Thejeal

Abstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Saja Baheer Abdul WahhabMetabolic Clinic, Children Welfare Teaching Hospital, Medical City Complex, Baghdad, Iraq.
Rabab Farhan ThejealMetabolic Clinic, Children Welfare Teaching Hospital, Medical City Complex, Baghdad, Iraq.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare lysosomal storage disorder that causes early-onset skeletal dysplasia and progressive multisystem involvement. Although international cohorts have been described, population-specific data from the Middle East remain limited. Objective: This study aimed to characterize the clinical spectrum, functional status, and Methods: We retrospectively analyzed 33 children from 26 unrelated families with confirmed MPS IVA, recruited at the Children's Welfare Teaching Hospital in Baghdad between 2016 and 2022. Enzyme activity was measured on dried blood spots by LC-MS/MS, and Results: Fifteen distinct Conclusion: This first Iraqi cohort expands the

Indexed as

Allele-specific genotype–phenotype trendsEchocardiographyGALNS geneGlycosaminoglycansIraqLysosomal storage disordersMorquio A syndromeMucopolysaccharidosis IVANext-generation sequencingSkeletal dysplasia

Identifiers

PMID41399535
PMCPMC12702229

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.