- 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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- Successful treatment of a child with citrullinemia
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Lee KH, Park MS, Hahn SH
- KMID: 1963057
- J Genet Med.
- 1997 Sep;1(1):5-10.
The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or... -
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- Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges
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Phillips M, Sheaff MT, Szlosarek
- KMID: 2167635
- Cancer Res Treat.
- 2013 Dec;45(4):251-262.
Arginine deprivation is a novel antimetabolite strategy for the treatment of arginine-dependent cancers that exploits differential expression and regulation of key urea cycle enzymes. Several studies have focused on inactivation... -
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- A Case of Citrullinemia Presenting with Status Epilepticus
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Jang JY, You SJ, Yoo HW, Ko TS
- KMID: 2329325
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):252-256.
Status epilepticus and seizure in childhood have various etiologies. Metabolic disorders may be an important cause of seizure and status epilepticus in childhood. Citrullinemia is a form of urea cycle... -
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- Anesthetic care for living donor auxiliary partial orthotopic liver transplantation in the treatment of adult-onset type II citrullinemia: A case report
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Paek CM, Chung JY, Yi JW, Lee BJ, Kim DO, Kang JM
- KMID: 2299213
- Korean J Anesthesiol.
- 2008 Aug;55(2):244-249.
- doi: 10.4097/kjae.2008.55.2.244
A deficiency of the urea cycle enzyme, argininosuccinate synthetase which is produced in liver, makes citrullinemia, which is an autosomal recessive disorder. As the liver is the only organ which... -
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- Anesthesia for Living Related Liver Transplantation in Classic Citrullinemia: A case report
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Huh IY, Hwang KS, Park CH, Park SW, Shin JW, Chio KT
- KMID: 2237546
- Korean J Anesthesiol.
- 2004 Aug;47(2):287-291.
- doi: 10.4097/kjae.2004.47.2.287
Citrullinemia is an autosomal recessive disorder resulting in a deficiency of the urea cycle enzyme, argininosuccinate synthetase, which is mainly found in the liver. Despite the improvement in a dietary... -
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- Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia
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Kim BS, Joo SH, Lee SH, Lee JI, Kim HC, Nam DH, Park HC
- KMID: 2096651
- J Korean Surg Soc.
- 2011 Jun;80(Suppl 1):S51-S54.
- doi: 10.4174/jkss.2011.80.Suppl1.S51
Adult-onset type II citrullinemia (CTLN2) is a disorder caused by an inborn error of metabolism affecting the liver. CTLN2 is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia... -
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- A Case of Adult Onset Type II Citrullinemia with SLC25A13 Gene Mutation
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Kim JH, Park KW, Park CJ, Sun GH, Kim HH, Kim SY, Bae HY, Cho EH, Yang SH
- KMID: 2391909
- J Korean Endocr Soc.
- 2006 Dec;21(6):542-547.
Adult onset type II citrullinemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. This disease can occur at... -
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