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HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Known as: METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, MTHFR DEFICIENCY 
National Institutes of Health

Papers overview

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2015
2015
Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the remethylation of homocysteine to methionine. S… 
2008
2008
The patient had suffered from left hemiparesis at the age of thirteen months, and acute ischemic stroke of unknown etiology had… 
Highly Cited
1992
Highly Cited
1989
Highly Cited
1989
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented… 
1977
1977
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical…