Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.
Abeling
N G
NG
University of Amsterdam, Department of Clinical Chemistry, Amsterdam, The Netherlands.
van Gennip
A H
AH
Blom
H
H
Wevers
R A
RA
Vreken
P
P
van Tinteren
H L
HL
Bakker
H D
HD
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
D008715:Methionine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)