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Article

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.

American journal of medical genetics - 18 May 1998

Arn P H, Williams C A, Zori R T, Driscoll D J, Rosenblatt D S

Abstract excerpt

Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency w...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9605586

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9605586-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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