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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
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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
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2002
2002
Methylenetetrahydrofolate reductase deficiency (MTHFR) is a rare autosomal recessive disorder. There have been 68 cases reported… Expand
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1992
1992
A 16-year-old girl from Surinam presented with mental deterioration and severe paraparesis with areflexia and bilateral Babinski… Expand
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1989
1989
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented… Expand
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1983
1983
 
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1977
1977
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical… Expand
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