title: Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.
authors.affiliation: University of Amsterdam, Department of Clinical Chemistry, Amsterdam, The Netherlands.
authors.forename: N G
authors.initials: NG
authors.lastname: Abeling
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: H
authors.initials: H
authors.lastname: Blom
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: H L
authors.initials: HL
authors.lastname: van Tinteren
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
mesh_terms: D005260:Female; D006712:Homocystinuria / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D020138:Hyperhomocysteinemia / Q000175:diagnosis / Q000188:drug therapy; D007231:Infant, Newborn; D008715:Methionine / Q000008:administration & dosage / Q000494:pharmacology*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D008715:Methionine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)