Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Morquio A disease: clinical and molecular study of Tunisian patients].

Annales de biologie clinique - 1 Jan 2000

Khedhiri Souhir, Chkioua Latifa, Ferchichi Salima, Miled Abdelhedi, Laradi Sandrine

Abstract excerpt

Type IVA mucopolysaccharidosis or Morquio A disease is a lysosomal storage disease, autosomal recessive, caused by deficiency of the N-acetylgalactosamine-6-sulfate sulfatase or GALNS. The severe phenotype is characterized by a severe skeletal dysplasia without any mental retardation. The aim of this study was to propose a strategy of molecular and prenatal diagnosis of this pathology. A molecular study was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers
Share to Consanguinity
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Mucopolysaccharidosis IV

Share to Prenatal Diagnosis

Share to Tunisia

Share to Young Adult

Source

Identifiers

PMID: 21896407
DOI: 10.1684/abc.2011.0593

Genes

GALNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Morquio A disease: clinical and molecular study of Tunisian patients].PMID 21896407Read ↗

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

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

[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].Semantic proximity Read ↗

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

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

Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.Semantic proximity Read ↗

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

International Morquio A Registry: clinical manifestation and natural course of 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 ↗

Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian familiesSemantic 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 ↗

⌁Select a neighboring publication to make it the new centre.