A folate receptor defect that causes treatable neurological disorder in children.

Abstract

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism Steinfeld et al. (2009) The American Journal of Human Genetics 85: 354-363. 
DOI: 10.1111/j.1399-0004.2009.01365_2.x

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