- Physiological, Pharmacological and Toxicological Implications of Heterodimeric Amino Acid Transporters
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Kanai Y, Endou H
- KMID: 2285295
- Korean J Physiol Pharmacol.
- 2004 Jun;8(3):117-128.
The heterodimeric amino acid transporter family is a subfamily of SLC7 solute transporter family which includes 14-transmembrane cationic amino acid transporters and 12-transmembrane heterodimeric amino acid transporters. The members of... -
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- Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
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Lee EH, Kim YH, Hwang JS, Kim SH
- KMID: 1713853
- J Korean Med Sci.
- 2010 Jan;25(1):172-175.
- doi: 10.3346/jkms.2010.25.1.172
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and... -
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- A case of Hyperornithinemia-Hyperam monemia-Homocitrullinuria Syndrome: a Patient Who Visited the Emergency Center with Mental Change
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Jeong WJ, Han SK, Yi HY, Lee WS, Ryu S, Lee JW, Kim SW, Yoo IS, You YH
- KMID: 2332232
- J Korean Soc Emerg Med.
- 2008 Apr;19(2):225-228.
Rapid ammonia elevation in blood with accompanying mental change should be considered as a true medical emergency. In such a case, action leading to immediate diagnosis and the earliest possible... -
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