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Article

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

Journal of inherited metabolic disease - 1 Apr 2007

Montaño A M, Tomatsu S, Gottesman G S, Smith M, Orii T

Abstract excerpt

Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The natural history of this disease is incompletely understood. To study which variables influence the clinical outcome, we conducted a study in which MPS IVA patients were asked to fill out a questionnaire with inquiries regarding family history, diagnosis,...

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Identifiers

PMID: 17347914
DOI: 10.1007/s10545-007-0529-7

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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

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International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.PMID 17347914Read ↗

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes surveySemantic proximity Read ↗

Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).Semantic proximity Read ↗

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

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational studySemantic proximity Read ↗

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

Review of clinical presentation and diagnosis of mucopolysaccharidosis 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 ↗

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech RepublicSemantic proximity Read ↗

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.Semantic proximity Read ↗

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseSemantic proximity Read ↗

Modelling Morquio A syndrome: an anthropometric study of body characteristics and statureSemantic proximity Read ↗

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