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Article

Genetic determinants of folate and vitamin B12 metabolism: a common pathway in neural tube defect and Down syndrome?

Clinical chemistry and laboratory medicine - 1 Nov 2003

Guéant Jean-Louis, Guéant-Rodriguez Rosa-Maria, Anello Guido, Bosco Paolo, Brunaud Laurent, Romano Corrado, Ferri Rafaele, Romano Antonino, Candito Mirande, Namour Bernard

Abstract excerpt

One-carbon metabolism is under the influence of folate, vitamin B12 and genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C --> T and 1298 A --> C), of methionine synthase (MTR 2756 C --> G), methionine synthase reductase (MTRR 66 A --> G) and transcobalamin (TCN 776 C --> G). The pathogenesis of neural tube defect (NTD) may be related to this metabolism. The influence of the MTHFR 677 C -->...

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Source

Identifiers

PMID: 14656028
DOI: 10.1515/CCLM.2003.226

Genes

MTHFR
MTRR
MTR

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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