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Article

Molecular analysis of homocystinuria in Brazilian patients.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2005

Porto Marianna P R, Galdieri Luciano C, Pereira Vanessa G, Vergani Naja, da Rocha José Cláudio C, Micheletti Cecília, Martins Ana Maria, Perez Ana Beatriz A, Almeida Vânia D

Abstract excerpt

BACKGROUND: Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. However, no data are available concerning the molecular basis of this disease in Brazilian populations. METHODS: We studied 14 Brazilian patients from 11 unrelated families using a combined screening approach, involving restriction analysis, single-strand conformational polymorphism (SSCP) scanning, and...

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Share to Homocysteine
Share to 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brazil

Share to Cystathionine beta-Synthase

Share to Homocystinuria

Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 15993874
DOI: 10.1016/j.cccn.2005.05.030

Genes

CBS
MTHFR
MTR

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.

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