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Article

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

American journal of human genetics - 1 Sept 2009

Steinfeld Robert, Grapp Marcel, Kraetzner Ralph, Dreha-Kulaczewski Steffi, Helms Gunther, Dechent Peter, Wevers Ron, Grosso Salvatore, Gärtner Jutta

Abstract excerpt

Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all of which cause systemic folate deficiency. We identified an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 (FOLR1) gene coding for folate...

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Source

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Identifiers

PMID: 19732866
DOI: 10.1016/j.ajhg.2009.08.005
PMCID: PMC2771535

Genes

FOLR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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