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

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

Topic mentions per year

Topic mentions per year

1977-2016
01219772016

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2014
2014
IMPORTANCE Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated… (More)
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2012
2012
The brain is particularly sensitive to folate metabolic disturbances, since methyl groups are critical for its functions… (More)
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2010
2010
OBJECTIVE To validate a 2-tier approach for newborn screening (NBS) of remethylation defects. STUDY DESIGN The original NBS… (More)
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2009
2009
Hyperhomocysteinemia (HHcy) can result from genetic or nutritional disturbances in folate metabolism. The most common genetic… (More)
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2005
2005
BACKGROUND Genetic or nutritional disturbances in folate metabolism may affect embryonic development because of the critical role… (More)
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2004
2004
MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized… (More)
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2000
2000
Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when… (More)
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Highly Cited
1995
Highly Cited
1995
5-Methyltetrahydrofolate, the major form of folate in plasma, is a carbon donor for the remethylation of homocysteine to… (More)
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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… (More)
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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… (More)
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