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Article

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Molecular genetics and metabolism - 1 Mar 2006

Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick R J

Abstract excerpt

Mucopolysaccharidosis type IVA (MPS IVA; OMIM #253000) or Morquio A syndrome is an autosomal recessive inborn error resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfatase (GALNS), and the progressive lysosomal accumulation of sulfated glycosaminoglycans....

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Source

Identifiers

PMID: 16378744
DOI: 10.1016/j.ymgme.2005.11.001

Genes

GALNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16378744-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.PMID 16378744Read ↗

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[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].Semantic proximity Read ↗

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

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