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In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydratase...
Purpose: To assess whether the 677C→T mutation of methylenetetrahydrofolate reductase (MTHFR), a crucial enzyme in homocysteine metabolism, is associated with increased risk of coronary atherosclerosis, and whether folate status modifies the association.Methods: Data were collected from males and females, aged 25 to 65 years, with severe coronary atherosclerosis (cases, n = 131) or virtually no coronary...
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