- A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene
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Ahn JY, Choi MS, Lee JH, Park SK
- KMID: 2164191
- Korean J Perinatol.
- 2015 Dec;26(4):348-351.
- doi: 10.14734/kjp.2015.26.4.348
C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays... -
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- Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders
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Kim SZ
- KMID: 2168076
- Hanyang Med Rev.
- 2005 Aug;25(3):92-101.
Purine & pyrimidine nucleotides are basic constituents of cellular DNA and RNA polynucleotides. Their function includes regulation of cell metabolism and function, energy conservation and transport and formation of coenzymes... -
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