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Article

Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.

Human mutation - 1 May 2006

Chen X, Wang L, Fazlieva R, Kruger W D

Abstract excerpt

Cystathionine beta-synthase (CBS) deficiency is a recessive genetic disorder characterized by extremely elevated levels in plasma homocysteine. Patients homozygous for the I278T or R266K mutations respond clinically to pharmacologic doses of pyridoxine, the precursor of a cofactor for the enzyme, 5'-pyridoxal phosphate (PLP). Here we test the hypothesis that these mutations are pyridoxine responsive because they...

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Source

Identifiers

PMID: 16619244
DOI: 10.1002/humu.20320

Genes

CBS

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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Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.PMID 16619244Read ↗

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