Folate receptor α deficiency – Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach
Authors Dreha-Kulaczewski S, Sahoo P, Preusse M, Gkalimani I, Dechent P, Helms G, Hofer S, Steinfeld R, Gärtner J Journal Journal of Inherited Metabolic Disease Citation J Inherit Metab Dis. 2024 Mar;47(2):387-403. Abstract Cerebral folate transport deficiency, caused by a genetic defect in folate receptor α, is a devastating neurometabolic
