- CT and MR Imaging in 3 Patients with Hyperammonemia Due to Ornithine Transcarbamylase Deficiency
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Kim KJ, Kim DH, Lee HK, Choi DL, Hong HS, Jung MS, Kwon KK
- KMID: 2346162
- J Korean Radiol Soc.
- 1995 Sep;33(3):439-442.
CT and MR appearance of the brain in three children with ornithine transcarbamylase (OTC) deficiency are described. They showed clinical signs of vomiting and convulsion and were diagnosed by measurement of... -
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- A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia
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Ahn BW, Kim HJ, Park HD, Kim WD
- KMID: 2321496
- J Korean Soc Neonatol.
- 2010 Nov;17(2):250-253.
Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with... -
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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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