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Article

Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.

European journal of pediatrics - 1 Apr 1998

Blom H J

Abstract excerpt

Moderate hyperhomocysteinaemia (MHH) is a risk factor for arteriosclerosis and thrombosis. About 10%-20% of the normal population have homocysteine levels contributing to an increased risk for arterial and venous disease. Main regulating enzymes of homocysteine metabolism are cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR). Heterozygosity for CBS deficiency is most likely not an...

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Source

Identifiers

PMID: 9587041
DOI: 10.1007/pl00014297

Genes

MTHFR
CBS

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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