Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.5.1.20 (
methylenetetrahydrofolate reductase
)
2,134
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 24 day old girl with homocystinuria and hypomethioninaemia caused by
methylenetetrahydrofolate reductase
deficiency presented with rapidly progressing encephalopathy and
myopathy
. An almost complete recovery was achieved by treatment with betaine.
...
PMID:Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. 262 32
