Isolated and Combined Remethylation Disorders
Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia. Isolated remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) , methionine synthase reductase (MTRR) , methionine synthase (MTR) , and MMADHC genes, and combined remethyl...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2017-01-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409816685732 |