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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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2016
2016
OBJECTIVE To describe an assay of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF) of children, to determine… Expand
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2015
2015
Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the remethylation of homocysteine to methionine. S… Expand
2009
2009
Hyperhomocysteinemia (HHcy) can result from genetic or nutritional disturbances in folate metabolism. The most common genetic… Expand
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2008
2008
The patient had suffered from left hemiparesis at the age of thirteen months, and acute ischemic stroke of unknown etiology had… Expand
2002
2002
Methylenetetrahydrofolate reductase deficiency (MTHFR) is a rare autosomal recessive disorder. There have been 68 cases reported… Expand
Highly Cited
1992
Highly Cited
1992
A 16-year-old girl from Surinam presented with mental deterioration and severe paraparesis with areflexia and bilateral Babinski… Expand
Highly Cited
1989
Highly Cited
1989
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented… Expand
1977
1977
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical… Expand