Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 genot...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Betaine
Share to Chromatography, Ion Exchange
Share to Cystathionine beta-Synthase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cysteine

Share to Dietary Supplements

Share to Homocysteine

Share to Homocystinuria

Share to Methionine

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15017331-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.PMID 15017331Read ↗

Modulation of the homocysteine-betaine relationship by methylenetetrahydrofolate reductase 677 C->t genotypes and B-vitamin status in a large-scale epidemiological study.Semantic proximity Read ↗

Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.Semantic proximity Read ↗

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.Semantic proximity Read ↗

Treatment of Inherited HomocystinuriasSemantic proximity Read ↗

Cystathionine beta-synthase mutations in homocystinuria.Semantic proximity Read ↗

Betaine supplementation modulates betaine concentration by methylenetetrahydrofolate reductase genotype, but has no effect on amino acid profile in healthy active males: A randomized placebo-controlled cross-over study.Semantic proximity Read ↗

The glycine N-methyltransferase (GNMT) 1289 C->T variant influences plasma total homocysteine concentrations in young women after restricting folate intake.Semantic proximity Read ↗

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.Semantic proximity Read ↗

Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.Semantic proximity Read ↗

The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.Semantic proximity Read ↗

cblEType of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expressionSemantic proximity Read ↗

Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.