First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

Volume: 21, Issue: 1
Published: Nov 26, 2020
Abstract
Background Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1 , mitochondrial diseases and congenital abnormalities in folate metabolism. Case presentation Here we first present a Chinese male CFD patient...
Paper Details
Title
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
Published Date
Nov 26, 2020
Volume
21
Issue
1
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