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Article

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.

Molecular genetics and metabolism - 1 Jun 2012

Pajares Sonia, Alcalde Carlos, Couce Ma Luz, Del Toro Mireia, González-Meneses Antonio, Guillén Encarna, Pineda Mercè, Pintos Guillem, Gort Laura, Coll Ma José

Abstract excerpt

Mucopolysaccharidosis type IVA (Morquio A) is an inherited metabolic disease with autosomal recessive inheritance. The pathology is due to a deficient activity of N-acetylgalactosamine-6-sulfate-sulfatase, which is involved in the degradation of keratan sulfate and chondroitin-6-sulfate. To date more than 150 mutations have been described in the GALNS gene in different populations. The aim of this study was to...

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Source

Identifiers

PMID: 22521955
DOI: 10.1016/j.ymgme.2012.03.006

Genes

GALNS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.PMID 22521955Read ↗

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.Semantic proximity Read ↗

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 ↗

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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.Semantic proximity Read ↗

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.Semantic proximity Read ↗

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Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.Semantic proximity Read ↗

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

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