title: Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, Eythstrasse 24, D-89075 Ulm, Germany. holger.cario@uniklinik-ulm.de
authors.forename: H
authors.initials: H
authors.lastname: Cario
authors.forename: H
authors.initials: H
authors.lastname: Bode
authors.forename: K-M
authors.initials: KM
authors.lastname: Debatin
authors.forename: T
authors.initials: T
authors.lastname: Opladen
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004305:Dose-Response Relationship, Drug; D058975:Folate Receptor 1; D058973:Folate Receptors, GPI-Anchored; D006801:Humans; D002955:Leucovorin / Q000008:administration & dosage; D008297:Male; D009154:Mutation; D009422:Nervous System Diseases / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D012313:RNA / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics*; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid / Q000172:deficiency*; D016896:Treatment Outcome
chemical_list: D002352:Carrier Proteins; C548696:FOLR1 protein, human; D058975:Folate Receptor 1; D058973:Folate Receptors, GPI-Anchored; D011956:Receptors, Cell Surface; D013763:Tetrahydrofolates; D012313:RNA; D002955:Leucovorin; C005984:5-methyltetrahydrofolate