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Article

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

Molecular genetics and metabolism - 1 Jun 2014

Morrone A, Tylee K L, Al-Sayed M, Brusius-Facchin A C, Caciotti A, Church H J, Coll M J, Davidson K, Fietz M J, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang R Y, Miller N

Abstract excerpt

Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and...

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Identifiers

PMID: 24726177
DOI: 10.1016/j.ymgme.2014.03.004
PMCID: PMC4203673

Genes

GALNS

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.PMID 24726177Read ↗

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

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

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 ↗

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.Semantic proximity Read ↗

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

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.Semantic proximity Read ↗

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).Semantic proximity Read ↗

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.Semantic proximity Read ↗

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.Semantic proximity Read ↗

Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.Semantic proximity Read ↗

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.Semantic proximity Read ↗

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