| 1 | CFLTD, FOLR1 |
| Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. | |
| Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J. | |
| Am J Hum Genet 85(3):354-63. 2009 | |