- A Case of Cystine Stone in a Child
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Cho CH, Hahm KS, Park JK, Kim KH
- KMID: 2139657
- Korean J Urol.
- 1986 Dec;27(6):933-938.
Cystinuria is an autosomal recessive inherited defect in renal tubular reabsorption of four amino acids, cystine, ornithine, lysine and arginine. Homozygotes were identified by the formation of urinary tract calculi... -
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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 Cystine Stone
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Yoon DK, Shin YS, Koh SK
- KMID: 2289654
- Korean J Urol.
- 1984 Feb;25(1):112-116.
Urinary tract calculi composed primarily of cystine are rare in adults and children. These are usually pure and found exclusively in patients with cystinuria. Cystinuria is an inherited defect in... -
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- A Case of Cystinuria with Multiple Renal Stones in an 8-month-old Girl
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Kang EG, Lee JH, Lee BH, Kim GH, Park YS
- KMID: 2098920
- J Korean Soc Pediatr Nephrol.
- 2013 Oct;17(2):122-126.
Cystinuria is an autosomal recessive disease characterized by impaired transport of cystine and dibasic amino acids in the proximal renal tubule, resulting in the formation of cystine stones. It is... -
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- A Case of Penicillamine Dermatopathy
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Pyo JY, Lee WJ, Koo DW
- KMID: 1595068
- Korean J Dermatol.
- 2001 Mar;39(3):341-343.
Penicillamine dermatopathy refers to the characteristic hemorrhagic skin lesions found in persons receiving long-term penicillamine therapy for either Wilson's disease or cystinuria. These lesions are thought to develop as a... -
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- Cystinuria 3 Cases
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Choi JE, Yun BY, Park HW, Park JH, Ha IS, Jeong HI, Choi Y, Choi H, Kim IW
- KMID: 2208341
- J Korean Pediatr Soc.
- 1995 Feb;38(2):245-251.
We report three cases of cystinuria, presenting with urinary stones. A 2-year-old girl presented with urinary difficulty, hematuria, dysuria of sudden onset, and her 7-month-old younger brother also was presented... -
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- Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria
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Kim JH, Park E, Hyun HS, Lee BH, Kim GH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI
- KMID: 2364176
- J Korean Med Sci.
- 2017 Feb;32(2):310-314.
- doi: 10.3346/jkms.2017.32.2.310
Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of... -
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- Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease
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Na SY, Choi M, Kim MJ, Lee JH, Cho S
- KMID: 2266191
- Ann Dermatol.
- 2010 Nov;22(4):468-471.
- doi: 10.5021/ad.2010.22.4.468
Elastosis perforans serpiginosa (EPS) is a rare reactive perforating dermatosis that is characterized by the transepidermal elimination of abnormal elastic fibers. Penicillamine, which is one of the clear triggers for... -
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- Ambulatory Evaluation of Nephrolithiasis in Korea
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Park JI, Sung GT, Yoon JH
- KMID: 1663282
- Korean J Urol.
- 1996 Dec;37(12):1375-1387.
In an outpatient setting, 107 patients were evaluated using a single 24-hour specimen with StoneRisk Diagnostic Profile on a random diet before medication and treatment and updated the classification of... -
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- Multimodal Treatments of Cystine Stones: An Observational, Retrospective Single-Center Analysis of 14 Cases
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Shim M, Park HK
- KMID: 1794585
- Korean J Urol.
- 2014 Aug;55(8):515-519.
- doi: 10.4111/kju.2014.55.8.515
PURPOSE: To document the experiences of a single institution in evaluating the clinical courses and treatment outcomes of patients with cystine stones. MATERIALS AND METHODS: The clinical data of 14 patients... -
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- 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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- Urinary Lithiasis in Children : A Single Center Study
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Lee HK, Lee SH, Han KH, Lee BH, Choi HJ, Ha IS, Cheong HI, Choi Y
- KMID: 2322136
- J Korean Soc Pediatr Nephrol.
- 2007 Oct;11(2):280-287.
PURPOSE: Urinary lithiasis is uncommon in children, however, it may lead to chronic renal insufficiency and even end stage renal disease. The etiology of stone formation in children is largely... -
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