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Volumn 34, Issue 3, 2007, Pages 347-362

Management of Cystinuria

Author keywords

[No Author keywords available]

Indexed keywords

CAPTOPRIL; GLUTAMINE; TIOPRONIN;

EID: 34547448735     PISSN: 00940143     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ucl.2007.04.006     Document Type: Review
Times cited : (39)

References (140)
  • 1
    • 0001047679 scopus 로고
    • On cystic oxide: a new species of urinary calculus
    • Wollaston W.H. On cystic oxide: a new species of urinary calculus. Trans R Soc London 100 (1810) 223
    • (1810) Trans R Soc London , Issue.100 , pp. 223
    • Wollaston, W.H.1
  • 2
    • 0011818613 scopus 로고
    • Calculus urinaires
    • Berzelius J.G. Calculus urinaires. Traite Chem 7 (1833) 424
    • (1833) Traite Chem , Issue.7 , pp. 424
    • Berzelius, J.G.1
  • 3
    • 0011857644 scopus 로고
    • Der kreislauf des schwefels in der organishcen
    • Friedman E. Der kreislauf des schwefels in der organishcen. Natur Ergeb Physiol 1 (1902) 15
    • (1902) Natur Ergeb Physiol , Issue.1 , pp. 15
    • Friedman, E.1
  • 4
    • 0002267935 scopus 로고
    • Inborn errors of metabolism
    • Garrod A.E. Inborn errors of metabolism. Lancet 2 (1908) 1
    • (1908) Lancet , Issue.2 , pp. 1
    • Garrod, A.E.1
  • 5
    • 0002633756 scopus 로고
    • Phenotypes and genotypes in cystinuria
    • Harris H., Mittwoch U., Robson E.B., et al. Phenotypes and genotypes in cystinuria. Ann Hum Genet 20 1 (1955) 57-91
    • (1955) Ann Hum Genet , vol.20 , Issue.1 , pp. 57-91
    • Harris, H.1    Mittwoch, U.2    Robson, E.B.3
  • 6
    • 0346454648 scopus 로고
    • The pattern of amino-acid excretion in cystinuria
    • Harris H., Mittwoch U., Robson E.B., et al. The pattern of amino-acid excretion in cystinuria. Ann Hum Genet 19 3 (1955) 196-208
    • (1955) Ann Hum Genet , vol.19 , Issue.3 , pp. 196-208
    • Harris, H.1    Mittwoch, U.2    Robson, E.B.3
  • 7
    • 0018417105 scopus 로고
    • Metabolic basis of renal-stone disease
    • Broadus A.E., and Thier S.O. Metabolic basis of renal-stone disease. N Engl J Med 300 15 (1979) 839-845
    • (1979) N Engl J Med , vol.300 , Issue.15 , pp. 839-845
    • Broadus, A.E.1    Thier, S.O.2
  • 8
    • 0014964205 scopus 로고
    • Dipeptide absorption in cystinuria
    • Hekkier M.D., Perrett D., and Holdsworth C.D. Dipeptide absorption in cystinuria. BMJ 4 (1970) 782-783
    • (1970) BMJ , vol.4 , pp. 782-783
    • Hekkier, M.D.1    Perrett, D.2    Holdsworth, C.D.3
  • 9
    • 34547442652 scopus 로고    scopus 로고
    • Palacin M, Bertran J, Chillaron J, et al. Amino Acids. In: The metabolic and molecular bases of inherited diseases. 8th edition. ed. VD. New York: McGraw-Hill; 2001.
  • 10
    • 0025195402 scopus 로고
    • Results of 5035 stone analyses: a contribution to epidemiology of urinary stone disease
    • Leusmann D.B., Blaschke R., and Schmandt W. Results of 5035 stone analyses: a contribution to epidemiology of urinary stone disease. Scand J Urol Nephrol 24 (1990) 205-210
    • (1990) Scand J Urol Nephrol , vol.24 , pp. 205-210
    • Leusmann, D.B.1    Blaschke, R.2    Schmandt, W.3
  • 11
    • 0023254167 scopus 로고
    • Management of the patient with cystinuria
    • Pahira J.J. Management of the patient with cystinuria. Urol Clin North Am 14 2 (1987) 339-346
    • (1987) Urol Clin North Am , vol.14 , Issue.2 , pp. 339-346
    • Pahira, J.J.1
  • 12
    • 0024811669 scopus 로고
    • Urinary tract stone disease in the United States veteran population. II. Geographical analysis of variations in composition
    • Mandel N.S., and Mandel G.S. Urinary tract stone disease in the United States veteran population. II. Geographical analysis of variations in composition. J Urol 142 6 (1989) 1516-1521
    • (1989) J Urol , vol.142 , Issue.6 , pp. 1516-1521
    • Mandel, N.S.1    Mandel, G.S.2
  • 13
    • 0027518817 scopus 로고
    • Urolithiasis in pediatric patients
    • Milliner D.S., and Murphy M.E. Urolithiasis in pediatric patients. Mayo Clin Proc 68 3 (1993) 241-248
    • (1993) Mayo Clin Proc , vol.68 , Issue.3 , pp. 241-248
    • Milliner, D.S.1    Murphy, M.E.2
  • 15
    • 13244281811 scopus 로고    scopus 로고
    • New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
    • Font-Llitjos M., Jimenez-Vidal M., Bisceglia L., et al. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 42 1 (2005) 58-68
    • (2005) J Med Genet , vol.42 , Issue.1 , pp. 58-68
    • Font-Llitjos, M.1    Jimenez-Vidal, M.2    Bisceglia, L.3
  • 16
    • 18544381349 scopus 로고    scopus 로고
    • Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification
    • Dello Strologo L., Pras E., Pontesilli C., et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 13 10 (2002) 2547-2553
    • (2002) J Am Soc Nephrol , vol.13 , Issue.10 , pp. 2547-2553
    • Dello Strologo, L.1    Pras, E.2    Pontesilli, C.3
  • 17
    • 0035665602 scopus 로고    scopus 로고
    • Heteromeric amino acid transporters: biochemistry, genetics, and physiology
    • Chillaron J., Roca R., Valencia A., et al. Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol 281 6 (2001) F995-F1018
    • (2001) Am J Physiol Renal Physiol , vol.281 , Issue.6
    • Chillaron, J.1    Roca, R.2    Valencia, A.3
  • 18
    • 1342281232 scopus 로고    scopus 로고
    • CATs and HATs: the SLC7 family of amino acid transporters
    • Verrey F., Closs E.I., Wagner C.A., et al. CATs and HATs: the SLC7 family of amino acid transporters. Pflugers Arch 447 5 (2004) 532-542
    • (2004) Pflugers Arch , vol.447 , Issue.5 , pp. 532-542
    • Verrey, F.1    Closs, E.I.2    Wagner, C.A.3
  • 19
    • 0032760623 scopus 로고    scopus 로고
    • New glycoprotein-associated amino acid transporters
    • Verrey F., Jack D.L., Paulsen I.T., et al. New glycoprotein-associated amino acid transporters. J Membr Biol 172 3 (1999) 181-192
    • (1999) J Membr Biol , vol.172 , Issue.3 , pp. 181-192
    • Verrey, F.1    Jack, D.L.2    Paulsen, I.T.3
  • 20
    • 0033929354 scopus 로고    scopus 로고
    • Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity
    • Verrey F., Meier C., Rossier G., et al. Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity. Pflugers Arch 440 4 (2000) 503-512
    • (2000) Pflugers Arch , vol.440 , Issue.4 , pp. 503-512
    • Verrey, F.1    Meier, C.2    Rossier, G.3
  • 21
    • 0035371517 scopus 로고    scopus 로고
    • The molecular bases of cystinuria and lysinuric protein intolerance
    • Palacin M., Borsani G., and Sebastio G. The molecular bases of cystinuria and lysinuric protein intolerance. Curr Opin Genet Dev 11 3 (2001) 328-335
    • (2001) Curr Opin Genet Dev , vol.11 , Issue.3 , pp. 328-335
    • Palacin, M.1    Borsani, G.2    Sebastio, G.3
  • 22
    • 0032849242 scopus 로고    scopus 로고
    • Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein
    • Chairoungdua A., Segawa H., Kim J.Y., et al. Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein. J Biol Chem 274 41 (1999) 28845-28848
    • (1999) J Biol Chem , vol.274 , Issue.41 , pp. 28845-28848
    • Chairoungdua, A.1    Segawa, H.2    Kim, J.Y.3
  • 23
    • 0032714690 scopus 로고    scopus 로고
    • Luminal heterodimeric amino acid transporter defective in cystinuria
    • Pfeiffer R., Loffing J., Rossier G., et al. Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell 10 12 (1999) 4135-4147
    • (1999) Mol Biol Cell , vol.10 , Issue.12 , pp. 4135-4147
    • Pfeiffer, R.1    Loffing, J.2    Rossier, G.3
  • 24
    • 0036720666 scopus 로고    scopus 로고
    • rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney
    • Fernandez E., Carrascal M., Rousaud F., et al. rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney. Am J Physiol Renal Physiol 283 3 (2002) F540-F548
    • (2002) Am J Physiol Renal Physiol , vol.283 , Issue.3
    • Fernandez, E.1    Carrascal, M.2    Rousaud, F.3
  • 25
    • 0013887059 scopus 로고
    • Cystinuria: biochemical evidence for three genetically distinct diseases
    • Rosenberg L.E., Downing S., Durant J.L., et al. Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest 45 3 (1966) 365-371
    • (1966) J Clin Invest , vol.45 , Issue.3 , pp. 365-371
    • Rosenberg, L.E.1    Downing, S.2    Durant, J.L.3
  • 26
    • 0035865031 scopus 로고    scopus 로고
    • Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
    • Font M.A., Feliubadalo L., Estivill X., et al. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet 10 4 (2001) 305-316
    • (2001) Hum Mol Genet , vol.10 , Issue.4 , pp. 305-316
    • Font, M.A.1    Feliubadalo, L.2    Estivill, X.3
  • 27
    • 0036406524 scopus 로고    scopus 로고
    • SLC7A9 mutations in all three cystinuria subtypes
    • Leclerc D., Boutros M., Suh D., et al. SLC7A9 mutations in all three cystinuria subtypes. Kidney Int 62 5 (2002) 1550-1559
    • (2002) Kidney Int , vol.62 , Issue.5 , pp. 1550-1559
    • Leclerc, D.1    Boutros, M.2    Suh, D.3
  • 28
    • 0037357799 scopus 로고    scopus 로고
    • Mutation analysis of SLC7A9 in cystinuria patients in Sweden
    • Harnevik L., Fjellstedt E., Molbaek A., et al. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Genet Test 7 1 (2003) 13-20
    • (2003) Genet Test , vol.7 , Issue.1 , pp. 13-20
    • Harnevik, L.1    Fjellstedt, E.2    Molbaek, A.3
  • 29
    • 0028237714 scopus 로고
    • Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
    • Calonge M.J., Gasparini P., Chillaron J., et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6 4 (1994) 420-425
    • (1994) Nat Genet , vol.6 , Issue.4 , pp. 420-425
    • Calonge, M.J.1    Gasparini, P.2    Chillaron, J.3
  • 30
    • 0029061119 scopus 로고
    • Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
    • Calonge M.J., Nadal M., Calvano S., et al. Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Hum Genet 95 6 (1995) 633-636
    • (1995) Hum Genet , vol.95 , Issue.6 , pp. 633-636
    • Calonge, M.J.1    Nadal, M.2    Calvano, S.3
  • 31
    • 0028556715 scopus 로고
    • Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization
    • Zhang X.X., Rozen R., Hediger M.A., et al. Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization. Genomics 24 2 (1994) 413-414
    • (1994) Genomics , vol.24 , Issue.2 , pp. 413-414
    • Zhang, X.X.1    Rozen, R.2    Hediger, M.A.3
  • 32
    • 0033567939 scopus 로고    scopus 로고
    • Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1
    • Feliubadalo L., Bisceglia L., Font M., et al. Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. Genomics 60 3 (1999) 362-365
    • (1999) Genomics , vol.60 , Issue.3 , pp. 362-365
    • Feliubadalo, L.1    Bisceglia, L.2    Font, M.3
  • 33
    • 16944366211 scopus 로고    scopus 로고
    • Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1
    • Bisceglia L., Calonge M.J., Totaro A., et al. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 60 3 (1997) 611-616
    • (1997) Am J Hum Genet , vol.60 , Issue.3 , pp. 611-616
    • Bisceglia, L.1    Calonge, M.J.2    Totaro, A.3
  • 34
    • 0031029375 scopus 로고    scopus 로고
    • Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q
    • Wartenfeld R., Golomb E., Katz G., et al. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60 3 (1997) 617-624
    • (1997) Am J Hum Genet , vol.60 , Issue.3 , pp. 617-624
    • Wartenfeld, R.1    Golomb, E.2    Katz, G.3
  • 35
    • 0033198717 scopus 로고    scopus 로고
    • Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients
    • Pras E., Kreiss Y., Frishberg Y., et al. Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients. Genomics 60 2 (1999) 248-250
    • (1999) Genomics , vol.60 , Issue.2 , pp. 248-250
    • Pras, E.1    Kreiss, Y.2    Frishberg, Y.3
  • 36
    • 1842376244 scopus 로고    scopus 로고
    • An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K
    • Chillaron J., Estevez R., Samarzija I., et al. An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K. J Biol Chem 272 14 (1997) 9543-9549
    • (1997) J Biol Chem , vol.272 , Issue.14 , pp. 9543-9549
    • Chillaron, J.1    Estevez, R.2    Samarzija, I.3
  • 37
    • 0031807024 scopus 로고    scopus 로고
    • Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype
    • Saadi I., Chen X.Z., Hediger M., et al. Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype. Kidney Int 54 1 (1998) 48-55
    • (1998) Kidney Int , vol.54 , Issue.1 , pp. 48-55
    • Saadi, I.1    Chen, X.Z.2    Hediger, M.3
  • 38
    • 30944454883 scopus 로고    scopus 로고
    • Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria
    • Yuen Y.P., Lam C.W., Lai C.K., et al. Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria. Kidney Int 69 1 (2006) 123-128
    • (2006) Kidney Int , vol.69 , Issue.1 , pp. 123-128
    • Yuen, Y.P.1    Lam, C.W.2    Lai, C.K.3
  • 39
    • 27144498155 scopus 로고    scopus 로고
    • Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients
    • Chatzikyriakidou A., Sofikitis N., and Georgiou I. Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. Genet Test 9 3 (2005) 175-184
    • (2005) Genet Test , vol.9 , Issue.3 , pp. 175-184
    • Chatzikyriakidou, A.1    Sofikitis, N.2    Georgiou, I.3
  • 40
    • 24944584817 scopus 로고    scopus 로고
    • Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients
    • Skopkova Z., Hrabincova E., Stastna S., et al. Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. Ann Hum Genet 69 Pt 5 (2005) 501-507
    • (2005) Ann Hum Genet , vol.69 , Issue.PART 5 , pp. 501-507
    • Skopkova, Z.1    Hrabincova, E.2    Stastna, S.3
  • 41
    • 14044272996 scopus 로고    scopus 로고
    • Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes
    • Guillen M., Corella D., Cabello M.L., et al. Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes. Clin Genet 67 3 (2005) 240-251
    • (2005) Clin Genet , vol.67 , Issue.3 , pp. 240-251
    • Guillen, M.1    Corella, D.2    Cabello, M.L.3
  • 42
    • 0035206016 scopus 로고    scopus 로고
    • Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients
    • Harnevik L., Fjellstedt E., Molbaek A., et al. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. Hum Mutat 18 6 (2001) 516-525
    • (2001) Hum Mutat , vol.18 , Issue.6 , pp. 516-525
    • Harnevik, L.1    Fjellstedt, E.2    Molbaek, A.3
  • 43
    • 0035072947 scopus 로고    scopus 로고
    • Cystinuria type I: identification of eight new mutations in SLC3A1
    • Bisceglia L., Purroy J., Jimenez-Vidal M., et al. Cystinuria type I: identification of eight new mutations in SLC3A1. Kidney Int 59 4 (2001) 1250-1256
    • (2001) Kidney Int , vol.59 , Issue.4 , pp. 1250-1256
    • Bisceglia, L.1    Purroy, J.2    Jimenez-Vidal, M.3
  • 44
    • 0034164566 scopus 로고    scopus 로고
    • Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics
    • Gitomer W.L., Reed B.Y., and Pak C.Y. Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. Hum Mutat 15 4 (2000) 390
    • (2000) Hum Mutat , vol.15 , Issue.4 , pp. 390
    • Gitomer, W.L.1    Reed, B.Y.2    Pak, C.Y.3
  • 45
    • 0034004788 scopus 로고    scopus 로고
    • Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria
    • Egoshi K.I., Akakura K., Kodama T., et al. Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria. Kidney Int 57 1 (2000) 25-32
    • (2000) Kidney Int , vol.57 , Issue.1 , pp. 25-32
    • Egoshi, K.I.1    Akakura, K.2    Kodama, T.3
  • 46
    • 0031742074 scopus 로고    scopus 로고
    • Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria
    • Gitomer W.L., Reed B.Y., Ruml L.A., et al. Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. J Clin Endocrinol Metab 83 10 (1998) 3688-3694
    • (1998) J Clin Endocrinol Metab , vol.83 , Issue.10 , pp. 3688-3694
    • Gitomer, W.L.1    Reed, B.Y.2    Ruml, L.A.3
  • 47
    • 0031985542 scopus 로고    scopus 로고
    • A splicing mutation (891 + 4A - > G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family
    • Pras E., Golomb E., Drake C., et al. A splicing mutation (891 + 4A - > G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family. Hum Mutat Suppl 1 (1998) S28-S30
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Pras, E.1    Golomb, E.2    Drake, C.3
  • 48
    • 0036422749 scopus 로고    scopus 로고
    • Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria
    • Lahme S., Bichler K.H., Eggermann T., et al. Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria. Urol Int 69 3 (2002) 207-211
    • (2002) Urol Int , vol.69 , Issue.3 , pp. 207-211
    • Lahme, S.1    Bichler, K.H.2    Eggermann, T.3
  • 49
    • 33645787794 scopus 로고    scopus 로고
    • Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype
    • Brauers E., Schmidt C., Zerres K., et al. Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype. Clin Nephrol 65 4 (2006) 262-266
    • (2006) Clin Nephrol , vol.65 , Issue.4 , pp. 262-266
    • Brauers, E.1    Schmidt, C.2    Zerres, K.3
  • 50
    • 12844249480 scopus 로고    scopus 로고
    • Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping
    • Schmidt C., Lahme S., Zerres K., et al. Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. Mol Genet Metab 84 2 (2005) 172-175
    • (2005) Mol Genet Metab , vol.84 , Issue.2 , pp. 172-175
    • Schmidt, C.1    Lahme, S.2    Zerres, K.3
  • 51
    • 0016328384 scopus 로고
    • High frequency of cystinuria among Jews of Libyan origin
    • Weinberger A., Sperling O., Rabinovitz M., et al. High frequency of cystinuria among Jews of Libyan origin. Hum Hered 24 5-6 (1974) 568-572
    • (1974) Hum Hered , vol.24 , Issue.5-6 , pp. 568-572
    • Weinberger, A.1    Sperling, O.2    Rabinovitz, M.3
  • 52
    • 0016570478 scopus 로고
    • Proceedings: rarity of cystinuria type I among cystinuric Jews of Libyan origin
    • Weinberger A., Sperling O., Rabinovitz M., et al. Proceedings: rarity of cystinuria type I among cystinuric Jews of Libyan origin. Isr J Med Sci 11 11 (1975) 1217
    • (1975) Isr J Med Sci , vol.11 , Issue.11 , pp. 1217
    • Weinberger, A.1    Sperling, O.2    Rabinovitz, M.3
  • 53
    • 0037664646 scopus 로고    scopus 로고
    • Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls
    • Sidi R., Levy-Nissenbaum E., Kreiss I., et al. Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls. Isr Med Assoc J 5 6 (2003) 439-442
    • (2003) Isr Med Assoc J , vol.5 , Issue.6 , pp. 439-442
    • Sidi, R.1    Levy-Nissenbaum, E.2    Kreiss, I.3
  • 54
    • 29244476037 scopus 로고    scopus 로고
    • Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome
    • Jaeken J., Martens K., Francois I., et al. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet 78 1 (2006) 38-51
    • (2006) Am J Hum Genet , vol.78 , Issue.1 , pp. 38-51
    • Jaeken, J.1    Martens, K.2    Francois, I.3
  • 55
    • 0017660989 scopus 로고
    • Cystinuria and mental deficiency
    • Gold R.J., Dobrinski M.J., and Gold D.P. Cystinuria and mental deficiency. Clin Genet 12 6 (1977) 329-332
    • (1977) Clin Genet , vol.12 , Issue.6 , pp. 329-332
    • Gold, R.J.1    Dobrinski, M.J.2    Gold, D.P.3
  • 56
    • 34547414693 scopus 로고
    • Long term study of a family with the Fanconi syndrome and cystinuria
    • Hunt D.D., Stearns G., Froning E.C., et al. Long term study of a family with the Fanconi syndrome and cystinuria. Surg Forum 16 (1965) 462-464
    • (1965) Surg Forum , vol.16 , pp. 462-464
    • Hunt, D.D.1    Stearns, G.2    Froning, E.C.3
  • 58
    • 0014513090 scopus 로고
    • Cystathioninuria in a patient with cystinuria
    • Frimpter G.W. Cystathioninuria in a patient with cystinuria. Am J Med 46 5 (1969) 832-836
    • (1969) Am J Med , vol.46 , Issue.5 , pp. 832-836
    • Frimpter, G.W.1
  • 59
    • 0016834551 scopus 로고
    • Phenylketonuria in a patient with cystinuria
    • Minami R., Olek K., and Wardenbach P. Phenylketonuria in a patient with cystinuria. Humangenetik 28 4 (1975) 319-324
    • (1975) Humangenetik , vol.28 , Issue.4 , pp. 319-324
    • Minami, R.1    Olek, K.2    Wardenbach, P.3
  • 60
    • 0028149351 scopus 로고
    • Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family
    • Berthelot J.M., Maugars Y., Robillard N., et al. Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. Am J Med Genet 53 1 (1994) 72-74
    • (1994) Am J Med Genet , vol.53 , Issue.1 , pp. 72-74
    • Berthelot, J.M.1    Maugars, Y.2    Robillard, N.3
  • 61
    • 0025836532 scopus 로고
    • Jeune syndrome and cystinuria
    • Clayton-Smith J. Jeune syndrome and cystinuria. Am J Med Genet 41 4 (1991) 531-532
    • (1991) Am J Med Genet , vol.41 , Issue.4 , pp. 531-532
    • Clayton-Smith, J.1
  • 62
    • 0015380465 scopus 로고
    • Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease
    • Groth U., and Rosenberg L.E. Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. J Clin Invest 51 8 (1972) 2130-2142
    • (1972) J Clin Invest , vol.51 , Issue.8 , pp. 2130-2142
    • Groth, U.1    Rosenberg, L.E.2
  • 63
    • 0017175392 scopus 로고
    • Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family
    • Bailey R.R., Carrell R.W., and Shannon F.T. Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family. Arch Dis Child 51 7 (1976) 558-561
    • (1976) Arch Dis Child , vol.51 , Issue.7 , pp. 558-561
    • Bailey, R.R.1    Carrell, R.W.2    Shannon, F.T.3
  • 64
    • 0032702573 scopus 로고    scopus 로고
    • A modified cyanide-nitroprusside method for quantifying urinary cystine concentration that corrects for creatinine interference
    • Nakagawa Y., and Coe F.L. A modified cyanide-nitroprusside method for quantifying urinary cystine concentration that corrects for creatinine interference. Clin Chim Acta 289 1-2 (1999) 57-68
    • (1999) Clin Chim Acta , vol.289 , Issue.1-2 , pp. 57-68
    • Nakagawa, Y.1    Coe, F.L.2
  • 65
    • 0043236110 scopus 로고    scopus 로고
    • Laterality of symptomatic cystine calculi
    • Purohit R.S., and Stoller M.L. Laterality of symptomatic cystine calculi. Urology 62 3 (2003) 421-424
    • (2003) Urology , vol.62 , Issue.3 , pp. 421-424
    • Purohit, R.S.1    Stoller, M.L.2
  • 66
    • 0024515546 scopus 로고
    • The spectrum of metabolic abnormalities in patients with cystine nephrolithiasis
    • Sakhaee K., Poindexter J.R., and Pak C.Y. The spectrum of metabolic abnormalities in patients with cystine nephrolithiasis. J Urol 41 4 (1989) 819-821
    • (1989) J Urol , vol.41 , Issue.4 , pp. 819-821
    • Sakhaee, K.1    Poindexter, J.R.2    Pak, C.Y.3
  • 67
    • 0018648770 scopus 로고
    • Heterozygous cystinuria and calcium oxalate urolithiasis
    • Resnick M.I., Goodman H.O., and Boyce W.H. Heterozygous cystinuria and calcium oxalate urolithiasis. J Urol 122 1 (1979) 52-54
    • (1979) J Urol , vol.122 , Issue.1 , pp. 52-54
    • Resnick, M.I.1    Goodman, H.O.2    Boyce, W.H.3
  • 68
    • 0019362787 scopus 로고
    • Amino acids in urine and blood of calculous patients
    • Thomas Jr. W.C., Malagodi M.H., and Rennert O.M. Amino acids in urine and blood of calculous patients. Invest Urol 19 2 (1981) 115-118
    • (1981) Invest Urol , vol.19 , Issue.2 , pp. 115-118
    • Thomas Jr., W.C.1    Malagodi, M.H.2    Rennert, O.M.3
  • 69
    • 0020565061 scopus 로고
    • Heterozygous cystinuria and calcium oxalate urolithiasis
    • Carpentier P.J., Kurth K.H., Blom W., et al. Heterozygous cystinuria and calcium oxalate urolithiasis. J Urol 130 2 (1983) 302-304
    • (1983) J Urol , vol.130 , Issue.2 , pp. 302-304
    • Carpentier, P.J.1    Kurth, K.H.2    Blom, W.3
  • 70
    • 0036135885 scopus 로고    scopus 로고
    • Cystine: a promoter of the growth and aggregation of calcium oxalate crystals in normal undiluted human urine
    • Martins M.C., Meyers A.A., Whalley N.A., et al. Cystine: a promoter of the growth and aggregation of calcium oxalate crystals in normal undiluted human urine. J Urol 167 1 (2002) 317-321
    • (2002) J Urol , vol.167 , Issue.1 , pp. 317-321
    • Martins, M.C.1    Meyers, A.A.2    Whalley, N.A.3
  • 71
    • 0037350328 scopus 로고    scopus 로고
    • Dissolved urate salts out calcium oxalate in undiluted human urine in vitro: implications for calcium oxalate stone genesis
    • Grover P.K., Marshall V.R., and Ryall R.L. Dissolved urate salts out calcium oxalate in undiluted human urine in vitro: implications for calcium oxalate stone genesis. Chem Biol 10 3 (2003) 271-278
    • (2003) Chem Biol , vol.10 , Issue.3 , pp. 271-278
    • Grover, P.K.1    Marshall, V.R.2    Ryall, R.L.3
  • 72
    • 23744467859 scopus 로고    scopus 로고
    • Pediatric ureteroscopic stone management
    • Thomas J.C., DeMarco R.T., Donohoe J.M., et al. Pediatric ureteroscopic stone management. J Urol 174 3 (2005) 1072-1074
    • (2005) J Urol , vol.174 , Issue.3 , pp. 1072-1074
    • Thomas, J.C.1    DeMarco, R.T.2    Donohoe, J.M.3
  • 73
    • 0031698372 scopus 로고    scopus 로고
    • Usefulness of cyanide-nitroprusside test in detecting incomplete recessive heterozygotes for cystinuria: a standardized dilution procedure
    • Finocchiaro R., D'Eufemia P., Celli M., et al. Usefulness of cyanide-nitroprusside test in detecting incomplete recessive heterozygotes for cystinuria: a standardized dilution procedure. Urol Res 26 6 (1998) 401-405
    • (1998) Urol Res , vol.26 , Issue.6 , pp. 401-405
    • Finocchiaro, R.1    D'Eufemia, P.2    Celli, M.3
  • 74
    • 0033782404 scopus 로고    scopus 로고
    • Clinical use of cystine supersaturation measurements
    • Nakagawa Y., Asplin J.R., Goldfarb D.S., et al. Clinical use of cystine supersaturation measurements. J Urol 164 5 (2000) 1481-1485
    • (2000) J Urol , vol.164 , Issue.5 , pp. 1481-1485
    • Nakagawa, Y.1    Asplin, J.R.2    Goldfarb, D.S.3
  • 75
    • 0035155658 scopus 로고    scopus 로고
    • Cystine analyses of separate day and night urine as a basis for the management of patients with homozygous cystinuria
    • Fjellstedt E., Denneberg T., Jeppsson J.O., et al. Cystine analyses of separate day and night urine as a basis for the management of patients with homozygous cystinuria. Urol Res 29 5 (2001) 303-310
    • (2001) Urol Res , vol.29 , Issue.5 , pp. 303-310
    • Fjellstedt, E.1    Denneberg, T.2    Jeppsson, J.O.3
  • 76
    • 0033009185 scopus 로고    scopus 로고
    • Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain
    • Guillen M., Corella D., Cabello M.L., et al. Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain. Clin Biochem 32 1 (1999) 25-30
    • (1999) Clin Biochem , vol.32 , Issue.1 , pp. 25-30
    • Guillen, M.1    Corella, D.2    Cabello, M.L.3
  • 78
    • 0024437659 scopus 로고
    • Cystine calculi-rough and smooth: a new clinical distinction
    • Bhatta K.M., Prien Jr. E.L., and Dretler S.P. Cystine calculi-rough and smooth: a new clinical distinction. J Urol 142 4 (1989) 937-940
    • (1989) J Urol , vol.142 , Issue.4 , pp. 937-940
    • Bhatta, K.M.1    Prien Jr., E.L.2    Dretler, S.P.3
  • 79
    • 4143066033 scopus 로고    scopus 로고
    • Spiral computed tomography: role in determination of chemical compositions of pure and mixed urinary stones-an in vitro study
    • Deveci S., Cokun M., Tekin M.I., Pekircioglu L., Tarhan N.C., and Ozkarde H. Spiral computed tomography: role in determination of chemical compositions of pure and mixed urinary stones-an in vitro study. Urology 64 2 (2004) 237-240
    • (2004) Urology , vol.64 , Issue.2 , pp. 237-240
    • Deveci, S.1    Cokun, M.2    Tekin, M.I.3    Pekircioglu, L.4    Tarhan, N.C.5    Ozkarde, H.6
  • 80
    • 0034910737 scopus 로고    scopus 로고
    • Hounsfield unit density in the determination of urinary stone composition
    • Motley G., Dalrymple N., Keesling C., Fischer J., and Harmon W. Hounsfield unit density in the determination of urinary stone composition. Urology 58 2 (2001) 170-173
    • (2001) Urology , vol.58 , Issue.2 , pp. 170-173
    • Motley, G.1    Dalrymple, N.2    Keesling, C.3    Fischer, J.4    Harmon, W.5
  • 81
    • 24944491694 scopus 로고    scopus 로고
    • Cystine: helical computerized tomography characterization of rough and smooth calculi in vitro
    • [discussion: 1470-1]
    • Kim S.C., Hatt E.K., Lingeman J.E., et al. Cystine: helical computerized tomography characterization of rough and smooth calculi in vitro. J Urol 174 4 Pt 1 (2005) 1468-1470 [discussion: 1470-1]
    • (2005) J Urol , vol.174 , Issue.4 PART 1 , pp. 1468-1470
    • Kim, S.C.1    Hatt, E.K.2    Lingeman, J.E.3
  • 82
    • 33751376905 scopus 로고    scopus 로고
    • Nondestructive analysis of urinary calculi using micro computed tomography
    • Zarse C.A., McAteer J.A., Sommer A.J., et al. Nondestructive analysis of urinary calculi using micro computed tomography. BMC Urol 4 1 (2004) 15
    • (2004) BMC Urol , vol.4 , Issue.1 , pp. 15
    • Zarse, C.A.1    McAteer, J.A.2    Sommer, A.J.3
  • 83
    • 0000238641 scopus 로고
    • Treatment of cystinuria
    • Dent C.E., Friedman M., Green H., et al. Treatment of cystinuria. Br Med J 5432 (1965) 403-408
    • (1965) Br Med J , vol.5432 , pp. 403-408
    • Dent, C.E.1    Friedman, M.2    Green, H.3
  • 84
    • 0034007656 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: critical reappraisal of long-term results
    • Barbey F., Joly D., Rieu P., et al. Medical treatment of cystinuria: critical reappraisal of long-term results. J Urol 163 5 (2000) 1419-1423
    • (2000) J Urol , vol.163 , Issue.5 , pp. 1419-1423
    • Barbey, F.1    Joly, D.2    Rieu, P.3
  • 85
    • 0031020732 scopus 로고    scopus 로고
    • Cystine calculi. Diagnosis and management
    • Rutchik S.D., and Resnick M.I. Cystine calculi. Diagnosis and management. Urol Clin North Am 24 1 (1997) 163-171
    • (1997) Urol Clin North Am , vol.24 , Issue.1 , pp. 163-171
    • Rutchik, S.D.1    Resnick, M.I.2
  • 87
    • 0014075164 scopus 로고
    • "Disappearance" of cystinuria in a patient treated with prolonged low methionine diet
    • Kolb F.O., Earll J.M., and Harper H.A. "Disappearance" of cystinuria in a patient treated with prolonged low methionine diet. Metabolism 16 4 (1967) 378-381
    • (1967) Metabolism , vol.16 , Issue.4 , pp. 378-381
    • Kolb, F.O.1    Earll, J.M.2    Harper, H.A.3
  • 88
    • 0025311955 scopus 로고
    • Dietary restriction of sodium as a means of reducing urinary cystine
    • Norman R.W., and Manette W.A. Dietary restriction of sodium as a means of reducing urinary cystine. J Urol 143 6 (1990) 1193-1195
    • (1990) J Urol , vol.143 , Issue.6 , pp. 1193-1195
    • Norman, R.W.1    Manette, W.A.2
  • 89
    • 0023033392 scopus 로고
    • Anticystinuric effects of glutamine and of dietary sodium restriction
    • Jaeger P., Portmann L., Saunders A., et al. Anticystinuric effects of glutamine and of dietary sodium restriction. N Engl J Med 315 18 (1986) 1120-1123
    • (1986) N Engl J Med , vol.315 , Issue.18 , pp. 1120-1123
    • Jaeger, P.1    Portmann, L.2    Saunders, A.3
  • 90
    • 0020533460 scopus 로고
    • Assessment of cystine solubility in urine and of heterogeneous nucleation
    • Pak C.Y., and Fuller C.J. Assessment of cystine solubility in urine and of heterogeneous nucleation. J Urol 129 5 (1983) 1066-1070
    • (1983) J Urol , vol.129 , Issue.5 , pp. 1066-1070
    • Pak, C.Y.1    Fuller, C.J.2
  • 91
    • 0026318109 scopus 로고
    • Etiology and treatment of urolithiasis
    • Pak C.Y. Etiology and treatment of urolithiasis. Am J Kidney Dis 18 6 (1991) 624-637
    • (1991) Am J Kidney Dis , vol.18 , Issue.6 , pp. 624-637
    • Pak, C.Y.1
  • 92
    • 0025875378 scopus 로고
    • Investigations of the efficacy of ascorbic acid therapy in cystinuria
    • Birwe H., Schneeberger W., and Hesse A. Investigations of the efficacy of ascorbic acid therapy in cystinuria. Urol Res 19 3 (1991) 199-201
    • (1991) Urol Res , vol.19 , Issue.3 , pp. 199-201
    • Birwe, H.1    Schneeberger, W.2    Hesse, A.3
  • 93
    • 75449149737 scopus 로고
    • Effect of penicillamine on cystinuria
    • Crawhall J.C., Scowen E.F., and Watts R.W. Effect of penicillamine on cystinuria. Br Med J 5330 (1963) 588-590
    • (1963) Br Med J , vol.5330 , pp. 588-590
    • Crawhall, J.C.1    Scowen, E.F.2    Watts, R.W.3
  • 94
    • 0013846448 scopus 로고
    • Stone dissolution with D-penicillamine in cystinuria
    • Lotz M., and Bartter F.C. Stone dissolution with D-penicillamine in cystinuria. Br Med J 5475 (1965) 1408-1409
    • (1965) Br Med J , vol.5475 , pp. 1408-1409
    • Lotz, M.1    Bartter, F.C.2
  • 95
    • 0014071670 scopus 로고
    • Excretion of trace elements in two penicillamine-treated cases of cystinuria
    • Bostrom H., and Wester P.O. Excretion of trace elements in two penicillamine-treated cases of cystinuria. Acta Med Scand 181 4 (1967) 475-483
    • (1967) Acta Med Scand , vol.181 , Issue.4 , pp. 475-483
    • Bostrom, H.1    Wester, P.O.2
  • 96
    • 0027459510 scopus 로고
    • Urinary excretion of metals during treatment with D-penicillamine and 2-mercaptopropionylglycine in normal and cystinuric dogs
    • Hoppe A., Denneberg T., Frank A., et al. Urinary excretion of metals during treatment with D-penicillamine and 2-mercaptopropionylglycine in normal and cystinuric dogs. J Vet Pharmacol Ther 16 1 (1993) 93-102
    • (1993) J Vet Pharmacol Ther , vol.16 , Issue.1 , pp. 93-102
    • Hoppe, A.1    Denneberg, T.2    Frank, A.3
  • 97
    • 0029770703 scopus 로고    scopus 로고
    • Pathogenesis and medical management of cystinuria
    • Sakhaee K. Pathogenesis and medical management of cystinuria. Semin Nephrol 16 5 (1996) 435-447
    • (1996) Semin Nephrol , vol.16 , Issue.5 , pp. 435-447
    • Sakhaee, K.1
  • 98
    • 0019810783 scopus 로고
    • The use of D-penicillamine in cystinuria: efficacy and untoward reactions
    • Halperin E.C., Thier S.O., and Rosenberg L.E. The use of D-penicillamine in cystinuria: efficacy and untoward reactions. Yale J Biol Med 54 6 (1981) 439-446
    • (1981) Yale J Biol Med , vol.54 , Issue.6 , pp. 439-446
    • Halperin, E.C.1    Thier, S.O.2    Rosenberg, L.E.3
  • 99
    • 0023032829 scopus 로고
    • Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine
    • Pak C.Y., Fuller C., Sakhaee K., et al. Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine. J Urol 136 5 (1986) 1003-1008
    • (1986) J Urol , vol.136 , Issue.5 , pp. 1003-1008
    • Pak, C.Y.1    Fuller, C.2    Sakhaee, K.3
  • 100
    • 0023237673 scopus 로고
    • Captopril reduces urinary cystine excretion in cystinuria
    • Sloand J.A., and Izzo Jr. J.L. Captopril reduces urinary cystine excretion in cystinuria. Arch Intern Med 147 8 (1987) 1409-1412
    • (1987) Arch Intern Med , vol.147 , Issue.8 , pp. 1409-1412
    • Sloand, J.A.1    Izzo Jr., J.L.2
  • 101
    • 0027253782 scopus 로고
    • Successful treatment of cystinuria with captopril
    • Perazella M.A., and Buller G.K. Successful treatment of cystinuria with captopril. Am J Kidney Dis 21 5 (1993) 504-507
    • (1993) Am J Kidney Dis , vol.21 , Issue.5 , pp. 504-507
    • Perazella, M.A.1    Buller, G.K.2
  • 102
    • 0024820793 scopus 로고
    • Effect of captopril on urinary cystine excretion in homozygous cystinuria
    • Streem S.B., and Hall P. Effect of captopril on urinary cystine excretion in homozygous cystinuria. J Urol 142 6 (1989) 1522-1524
    • (1989) J Urol , vol.142 , Issue.6 , pp. 1522-1524
    • Streem, S.B.1    Hall, P.2
  • 104
    • 0027364662 scopus 로고
    • Ineffectiveness of captopril in reducing cystine excretion in cystinuric children
    • Michelakakis H., Delis D., Anastasiadou V., et al. Ineffectiveness of captopril in reducing cystine excretion in cystinuric children. J Inherit Metab Dis 16 6 (1993) 1042-1043
    • (1993) J Inherit Metab Dis , vol.16 , Issue.6 , pp. 1042-1043
    • Michelakakis, H.1    Delis, D.2    Anastasiadou, V.3
  • 105
    • 0024517503 scopus 로고
    • Cystinuria: failure of captopril to reduce cystine excretion
    • 717
    • Dahlberg P.J., and Jones J.D. Cystinuria: failure of captopril to reduce cystine excretion. Arch Intern Med 149 3 (1989) 713 717
    • (1989) Arch Intern Med , vol.149 , Issue.3 , pp. 713
    • Dahlberg, P.J.1    Jones, J.D.2
  • 106
    • 0029029225 scopus 로고
    • Clinical effect of captopril on the formation and growth of cystine calculi
    • Cohen T.D., Streem S.B., and Hall P. Clinical effect of captopril on the formation and growth of cystine calculi. J Urol 154 1 (1995) 164-166
    • (1995) J Urol , vol.154 , Issue.1 , pp. 164-166
    • Cohen, T.D.1    Streem, S.B.2    Hall, P.3
  • 107
    • 34547413144 scopus 로고    scopus 로고
    • Koide T, Yoshioka T, Yamaguchi S, et al. A new therapeutic agent for cystinuria. In Proceedings of the new therapeutic agent for cystinuria. Plenum, Cairns, Australia; 1992.
  • 108
    • 0344924837 scopus 로고    scopus 로고
    • Studies of urinary cystine precipitation in vitro: ontogeny of cystine nephrolithiasis and identification of meso-2,3-dimercaptosuccinic acid as a potential therapy for cystinuria
    • Parvex P., Rozen R., Dziarmaga A., et al. Studies of urinary cystine precipitation in vitro: ontogeny of cystine nephrolithiasis and identification of meso-2,3-dimercaptosuccinic acid as a potential therapy for cystinuria. Mol Genet Metab 80 4 (2003) 419-425
    • (2003) Mol Genet Metab , vol.80 , Issue.4 , pp. 419-425
    • Parvex, P.1    Rozen, R.2    Dziarmaga, A.3
  • 109
    • 34547402787 scopus 로고    scopus 로고
    • The effects of ampicillin on cystine solubility in solution. in AUA
    • San Francisco
    • Johnston W.K., Chen J.L., Casey W.H., et al. The effects of ampicillin on cystine solubility in solution. in AUA. Poster presented at AUA (2004) San Francisco
    • (2004) Poster presented at AUA
    • Johnston, W.K.1    Chen, J.L.2    Casey, W.H.3
  • 110
    • 0029853391 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: results of contemporary clinical practice
    • Chow G.K., and Streem S.B. Medical treatment of cystinuria: results of contemporary clinical practice. J Urol 156 5 (1996) 1576-1578
    • (1996) J Urol , vol.156 , Issue.5 , pp. 1576-1578
    • Chow, G.K.1    Streem, S.B.2
  • 111
    • 0025824074 scopus 로고
    • Cystine stones: the impact of new treatment
    • Martin X., Salas M., Labeeuw M., et al. Cystine stones: the impact of new treatment. Br J Urol 68 3 (1991) 234-239
    • (1991) Br J Urol , vol.68 , Issue.3 , pp. 234-239
    • Martin, X.1    Salas, M.2    Labeeuw, M.3
  • 112
    • 33745194576 scopus 로고    scopus 로고
    • Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis
    • Worcester E.M., Coe F.L., Evan A.P., et al. Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis. BJU Int 97 6 (2006) 1285-1290
    • (2006) BJU Int , vol.97 , Issue.6 , pp. 1285-1290
    • Worcester, E.M.1    Coe, F.L.2    Evan, A.P.3
  • 113
    • 0017617513 scopus 로고
    • Nenonatal abnormalities associated with D-penicillamine treatment during pregnancy
    • Solomon L., Abrams G., Dinner M., et al. Nenonatal abnormalities associated with D-penicillamine treatment during pregnancy. N Engl J Med 296 1 (1977) 54-55
    • (1977) N Engl J Med , vol.296 , Issue.1 , pp. 54-55
    • Solomon, L.1    Abrams, G.2    Dinner, M.3
  • 114
    • 0021056236 scopus 로고
    • Pregnancy and cystinuria
    • Gregory M.C., and Mansell M.A. Pregnancy and cystinuria. Lancet 2 8360 (1983) 1158-1160
    • (1983) Lancet , vol.2 , Issue.8360 , pp. 1158-1160
    • Gregory, M.C.1    Mansell, M.A.2
  • 115
    • 33644859645 scopus 로고    scopus 로고
    • Urinary cystine excretion and capacity in patients with cystinuria
    • Goldfarb D.S., Coe F.L., and Asplin J.R. Urinary cystine excretion and capacity in patients with cystinuria. Kidney Int 69 6 (2006) 1041-1047
    • (2006) Kidney Int , vol.69 , Issue.6 , pp. 1041-1047
    • Goldfarb, D.S.1    Coe, F.L.2    Asplin, J.R.3
  • 116
    • 27744486727 scopus 로고    scopus 로고
    • Urological intervention in patients with cystinuria is decreased with medical compliance
    • [discussion: 2252]
    • Pareek G., Steele T.H., and Nakada S.Y. Urological intervention in patients with cystinuria is decreased with medical compliance. J Urol 174 6 (2005) 2250-2252 [discussion: 2252]
    • (2005) J Urol , vol.174 , Issue.6 , pp. 2250-2252
    • Pareek, G.1    Steele, T.H.2    Nakada, S.Y.3
  • 117
    • 0037213843 scopus 로고    scopus 로고
    • Durability of the medical management of cystinuria
    • Pietrow P.K., Auge B.K., Weizer A.Z., et al. Durability of the medical management of cystinuria. J Urol 169 1 (2003) 68-70
    • (2003) J Urol , vol.169 , Issue.1 , pp. 68-70
    • Pietrow, P.K.1    Auge, B.K.2    Weizer, A.Z.3
  • 118
    • 0036279518 scopus 로고    scopus 로고
    • The impact of cystinuria on renal function
    • Assimos D.G., Leslie S.W., Ng C., et al. The impact of cystinuria on renal function. J Urol 168 1 (2002) 27-30
    • (2002) J Urol , vol.168 , Issue.1 , pp. 27-30
    • Assimos, D.G.1    Leslie, S.W.2    Ng, C.3
  • 120
    • 7444257374 scopus 로고    scopus 로고
    • ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention
    • Jungers P., Joly D., Barbey F., et al. ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. Am J Kidney Dis 44 5 (2004) 799-805
    • (2004) Am J Kidney Dis , vol.44 , Issue.5 , pp. 799-805
    • Jungers, P.1    Joly, D.2    Barbey, F.3
  • 121
    • 0027462170 scopus 로고
    • Cystinuria and renal transplantation
    • Tuso P., Barnett M., Yasunaga C., et al. Cystinuria and renal transplantation. Nephron 63 4 (1993) 478
    • (1993) Nephron , vol.63 , Issue.4 , pp. 478
    • Tuso, P.1    Barnett, M.2    Yasunaga, C.3
  • 122
    • 0020965395 scopus 로고
    • Disappearance of cystinuria after kidney transplantation
    • Krizek V., Erben J., Lazn M., et al. Disappearance of cystinuria after kidney transplantation. Br J Urol 55 5 (1983) 575
    • (1983) Br J Urol , vol.55 , Issue.5 , pp. 575
    • Krizek, V.1    Erben, J.2    Lazn, M.3
  • 123
    • 33745080967 scopus 로고    scopus 로고
    • Renal crystal deposits and histopathology in patients with cystine stones
    • Evan A.P., Coe F.L., Lingeman J.E., et al. Renal crystal deposits and histopathology in patients with cystine stones. Kidney Int 69 12 (2006) 2227-2235
    • (2006) Kidney Int , vol.69 , Issue.12 , pp. 2227-2235
    • Evan, A.P.1    Coe, F.L.2    Lingeman, J.E.3
  • 124
    • 33645971940 scopus 로고    scopus 로고
    • Pediatric kidney stones: long-term outcomes
    • Schwarz R.D., and Dwyer N.T. Pediatric kidney stones: long-term outcomes. Urology 67 4 (2006) 812-816
    • (2006) Urology , vol.67 , Issue.4 , pp. 812-816
    • Schwarz, R.D.1    Dwyer, N.T.2
  • 125
    • 0032322220 scopus 로고    scopus 로고
    • Contemporary urological intervention for cystinuric patients: immediate and long-term impact and implications
    • [discussion: 344-5]
    • Chow G.K., and Streem S.B. Contemporary urological intervention for cystinuric patients: immediate and long-term impact and implications. J Urol 160 2 (1998) 341-344 [discussion: 344-5]
    • (1998) J Urol , vol.160 , Issue.2 , pp. 341-344
    • Chow, G.K.1    Streem, S.B.2
  • 126
    • 0023740473 scopus 로고
    • Long-term followup in patients with cystine urinary calculi treated by percutaneous ultrasonic lithotripsy
    • Knoll L.D., Segura J.W., Patterson D.E., et al. Long-term followup in patients with cystine urinary calculi treated by percutaneous ultrasonic lithotripsy. J Urol 140 2 (1988) 246-248
    • (1988) J Urol , vol.140 , Issue.2 , pp. 246-248
    • Knoll, L.D.1    Segura, J.W.2    Patterson, D.E.3
  • 127
    • 0025977123 scopus 로고
    • Endourological experience with cystine calculi and a treatment algorithm
    • Kachel T.A., Vijan S.R., and Dretler S.P. Endourological experience with cystine calculi and a treatment algorithm. J Urol 145 1 (1991) 25-28
    • (1991) J Urol , vol.145 , Issue.1 , pp. 25-28
    • Kachel, T.A.1    Vijan, S.R.2    Dretler, S.P.3
  • 128
    • 0027713260 scopus 로고
    • Efficacy of in vitro stone fragmentation by extracorporeal, electrohydraulic, and pulsed-dye laser lithotripsy
    • Wu T.T., Hsu T.H., Chen M.T., et al. Efficacy of in vitro stone fragmentation by extracorporeal, electrohydraulic, and pulsed-dye laser lithotripsy. J Endourol 7 5 (1993) 391-393
    • (1993) J Endourol , vol.7 , Issue.5 , pp. 391-393
    • Wu, T.T.1    Hsu, T.H.2    Chen, M.T.3
  • 129
    • 0021322129 scopus 로고
    • Percutaneous catheter dissolution of cystine calculi
    • Dretler S.P., Pfister R.C., Newhouse J.H., et al. Percutaneous catheter dissolution of cystine calculi. J Urol 131 2 (1984) 216-219
    • (1984) J Urol , vol.131 , Issue.2 , pp. 216-219
    • Dretler, S.P.1    Pfister, R.C.2    Newhouse, J.H.3
  • 130
    • 85012570105 scopus 로고
    • Experience with extracorporeal shock wave lithotripsy for cystien claculi in 20 renal units
    • Harada T., Zhao-Ren K., and Kamindono S. Experience with extracorporeal shock wave lithotripsy for cystien claculi in 20 renal units. J Endourol 6 (1992) 213-220
    • (1992) J Endourol , vol.6 , pp. 213-220
    • Harada, T.1    Zhao-Ren, K.2    Kamindono, S.3
  • 131
    • 0026424475 scopus 로고
    • [Extracorporeal shock wave lithotripsy for cystine urolithiasis]
    • [Hebrew]
    • Katz G. [Extracorporeal shock wave lithotripsy for cystine urolithiasis]. Harefuah 120 4 (1991) 182-184 [Hebrew]
    • (1991) Harefuah , vol.120 , Issue.4 , pp. 182-184
    • Katz, G.1
  • 132
    • 0141957015 scopus 로고    scopus 로고
    • Extracorporeal shock wave lithotripsy for cystine urolithiasis in children: outcome and complications
    • Slavkovic A., Radovanovic M., Vlajkovic M., et al. Extracorporeal shock wave lithotripsy for cystine urolithiasis in children: outcome and complications. Int Urol Nephrol 34 4 (2002) 457-461
    • (2002) Int Urol Nephrol , vol.34 , Issue.4 , pp. 457-461
    • Slavkovic, A.1    Radovanovic, M.2    Vlajkovic, M.3
  • 133
    • 0032757331 scopus 로고    scopus 로고
    • Retrograde renoscopic fragmentation of moderate-size (1.5-3.0-cm) renal cystine stones
    • Rudnick D.M., Bennett P.M., and Dretler S.P. Retrograde renoscopic fragmentation of moderate-size (1.5-3.0-cm) renal cystine stones. J Endourol 13 7 (1999) 483-485
    • (1999) J Endourol , vol.13 , Issue.7 , pp. 483-485
    • Rudnick, D.M.1    Bennett, P.M.2    Dretler, S.P.3
  • 134
    • 0033838446 scopus 로고    scopus 로고
    • Ureteroscopic management of recurrent renal cystine calculi
    • Kourambas J., Munver R., and Preminger G.M. Ureteroscopic management of recurrent renal cystine calculi. J Endourol 14 6 (2000) 489-492
    • (2000) J Endourol , vol.14 , Issue.6 , pp. 489-492
    • Kourambas, J.1    Munver, R.2    Preminger, G.M.3
  • 135
    • 0022450579 scopus 로고
    • In vitro dissolution of cystienurinary calculi
    • Burns J.R., and Hamrick L.C. In vitro dissolution of cystienurinary calculi. J Urol 136 4 (1986) 850
    • (1986) J Urol , vol.136 , Issue.4 , pp. 850
    • Burns, J.R.1    Hamrick, L.C.2
  • 136
    • 0022477639 scopus 로고
    • Chemolysis of cystine calculi
    • Saltzman N., and Gittes R.F. Chemolysis of cystine calculi. J Urol 136 4 (1986) 846-849
    • (1986) J Urol , vol.136 , Issue.4 , pp. 846-849
    • Saltzman, N.1    Gittes, R.F.2
  • 137
    • 0021367952 scopus 로고
    • Combination of chemolysis and shockwave lithotripsy in the treatment of cystine renal calculi
    • Schmeller N.T., Kersting H., and Schuller J. Combination of chemolysis and shockwave lithotripsy in the treatment of cystine renal calculi. J Urol 3 (1984) 434-438
    • (1984) J Urol , vol.3 , pp. 434-438
    • Schmeller, N.T.1    Kersting, H.2    Schuller, J.3
  • 138
    • 0027353841 scopus 로고
    • Treatment of cystine urolithiasis by a combination of extracorporeal shock wave lithotripsy and chemolysis
    • Ahlstrand C., and Tiselius H.G. Treatment of cystine urolithiasis by a combination of extracorporeal shock wave lithotripsy and chemolysis. J Stone Dis 5 1 (1993) 32-38
    • (1993) J Stone Dis , vol.5 , Issue.1 , pp. 32-38
    • Ahlstrand, C.1    Tiselius, H.G.2
  • 139
    • 0035160643 scopus 로고    scopus 로고
    • Simultaneous replacement of both ureters with small intestine in a woman with cystinuria
    • Schmidt J., Madersbacher S., Hochreiter W.W., et al. Simultaneous replacement of both ureters with small intestine in a woman with cystinuria. J Urol 166 6 (2001) 2315-2316
    • (2001) J Urol , vol.166 , Issue.6 , pp. 2315-2316
    • Schmidt, J.1    Madersbacher, S.2    Hochreiter, W.W.3
  • 140
    • 3142737991 scopus 로고    scopus 로고
    • In vitro and ex vivo gene delivery into proximal tubular cells by means of laser energy-a potential approach for curing cystinuria?
    • Knoll T., Sagi S., Trojan L., et al. In vitro and ex vivo gene delivery into proximal tubular cells by means of laser energy-a potential approach for curing cystinuria?. Urol Res 32 2 (2004) 129-132
    • (2004) Urol Res , vol.32 , Issue.2 , pp. 129-132
    • Knoll, T.1    Sagi, S.2    Trojan, L.3


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