- A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency
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Lee ES
- KMID: 2320145
- Yeungnam Univ J Med.
- 2007 Dec;24(2):322-328.
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea... -
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- A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation
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Kim BS, Kim KM, Yoo HW, Lee SG
- KMID: 2041992
- J Korean Pediatr Soc.
- 1999 Jun;42(6):868-873.
Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death... -
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- A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
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Moon SY, Jun IJ, Kim JE, Lee SJ, Kim HK, Yoon SS
- KMID: 1791912
- Ann Lab Med.
- 2014 Mar;34(2):159-162.
- doi: 10.3343/alm.2014.34.2.159
No abstract available. -
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