Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase

Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase

Abstract 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common folate metabolism disorder. MTHFR is a key enzyme in the folate cycle that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate (5-methyl THF). A definitive diagnosis of MTHFR de...

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Bibliographic Details
Main Authors: Kohei Sunoki, Miyuki Watanabe, Shiho Aoki, Eriko Jimbo, Hiroko Shimbo, Tomohide Goto, Hitoshi Osaka
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Folate cycle
Methionine cycle
Homocysteine
S-adenosylmethionine
High-performance liquid chromatography
Betaine
Online Access:https://doi.org/10.1038/s41598-025-07926-2
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https://doi.org/10.1038/s41598-025-07926-2

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