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Article

Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2008

Pereira Vanessa Gonçalves, Martins Ana Maria, Micheletti Cecília, D'Almeida Vânia

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type I (MPS I) patients present a wide range of clinical manifestations, which could be due to the high molecular heterogeneity of the IDUA gene and to pathological events besides the enzyme deficiency. The aim of this study was to identify the most common MPS I causing mutations and to evaluate some oxidative stress markers in Brazilian patients. METHODS: 3 common mutations in...

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Share to Gene Frequency
Share to Iduronidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17920576
DOI: 10.1016/j.cca.2007.09.008

Genes

IDUA

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.

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