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Article

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

Medicine - 1 Dec 2017

Tan Jianmin, Li Xiujuan, Guo Yi, Xie Lingling, Wang Juan, Ma Jiannan, Jiang Li

Abstract excerpt

RATIONALE: Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent infections, and neurological deficits. The neurological manifestations include progressive psychomotor retardation, behavioral disorders, and early-onset...

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Identifiers

PMID: 29390264
DOI: 10.1097/MD.0000000000008712
PMCID: PMC5815676

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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