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Article

Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.

Pathologie-biologie - 1 Jun 2012

Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ferchichi S, Ben Turkia H, Miled A, Laradi S

Abstract excerpt

UNLABELLED: Mucopolysaccharidosis type IVA or Morquio A disease is an autosomal recessive disease resulting from a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate-sulfatase, which hydrolyses N-acetylgalactosamine-6-sulfate and galactose-6-sulfate in glycosaminoglycans. Phenotypes in Morquio A disease vary from the classical form with severe bone dysplasia, heart valve involvement, corneal...

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Source

Identifiers

PMID: 22078177
DOI: 10.1016/j.patbio.2011.03.001

Genes

GALNS

Variants

Provenance

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.

Related research

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Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.PMID 22078177Read ↗

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

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.Semantic proximity Read ↗

[Morquio A disease: clinical and molecular study of Tunisian patients].Semantic proximity Read ↗

[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].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 mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.Semantic proximity Read ↗

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

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.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 ↗

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.Semantic proximity Read ↗

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort studySemantic proximity Read ↗

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