A folate receptor defect that causes treatable neurological disorder in children.
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.
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Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC V5Z4H4, Canada. willeke@cmmt.ubc.ca