- Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency
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Choi DE, Lee KW, Shin YT, Na KR
- KMID: 1372801
- J Korean Med Sci.
- 2012 May;27(5):556-559.
- doi: 10.3346/jkms.2012.27.5.556
Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea... -
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- The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence
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Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J
- KMID: 1714212
- J Korean Med Sci.
- 2012 Aug;27(8):961-964.
- doi: 10.3346/jkms.2012.27.8.961
Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical... -
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