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Article

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Singh Rani H, Kruger Warren D, Wang Liqun, Pasquali Marzia, Elsas Louis J

Abstract excerpt

PURPOSE: For treatment of cystathionine beta-synthase (CbetaS) deficiency, we determined the effect of betaine (N,N,N-trimethylglycine) therapy and examined the genotype-phenotype relationships to betaine. METHODS: In five patients with B6-nonresponsive homocystinuria, we defined the CbetaS genotypes and determined metabolic responses to betaine as an additive to traditional dietary methionine restriction....

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PMID: 15017331
DOI: 10.1097/01.gim.0000117334.84388.f4

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

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