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Article

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.

JMIR research protocols - 14 Nov 2024

Diaz-Ordoñez Lorena, Duque-Cordoba Paola Andrea, Nieva-Posso Daniel Andrés, Saldarriaga Wilmar, Gutierrez-Medina Juan David, Pachajoa Harry

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. This leads to a deficiency of the GALNS enzyme, causing the accumulation of glycosaminoglycans in tissues. Morquio A syndrome primarily affects the skeletal system and joints...

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Identifiers

PMID: 39541578
DOI: 10.2196/56649
PMCID: PMC11605256

Genes

GALNS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.PMID 39541578Read ↗

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Semantic proximity Read ↗

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.Semantic proximity Read ↗

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.Semantic proximity Read ↗

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Semantic proximity Read ↗

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Semantic proximity Read ↗

Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.Semantic proximity Read ↗

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistrySemantic proximity Read ↗

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