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Volumn 48, Issue 2, 2005, Pages 158-163

Cystinuria: Cause of renal stones in a one-year-old girl;Bir yaşindaki bir çocukta böbrekte taş nedeni olarak sistinüri

Author keywords

Cystinuria; Urolithiasis

Indexed keywords

AMINO ACID; CYANIDE; CYSTEINE; NITROPRUSSIDE SODIUM;

EID: 20044393359     PISSN: 00100161     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (35)
  • 1
    • 0002855984 scopus 로고
    • Cystinuria
    • Scriver CH, Beudet AL, Sly WS, Valle D (eds). New York: Mc Graw-Hill
    • th ed). New York: Mc Graw-Hill, 1995: 3581-3601.
    • (1995) th Ed.) , pp. 3581-3601
    • Segal, S.1    Their, S.O.2
  • 3
    • 0027326170 scopus 로고
    • Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes
    • Bertran J, Werner A, Chillaron J, et al. Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem 1993; 268: 14842-14849.
    • (1993) J Biol Chem , vol.268 , pp. 14842-14849
    • Bertran, J.1    Werner, A.2    Chillaron, J.3
  • 4
    • 0028237714 scopus 로고
    • Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
    • Calonge MJ, Gasparini P, Chillaron J, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 1994; 6: 420-425.
    • (1994) Nat Genet , vol.6 , pp. 420-425
    • Calonge, M.J.1    Gasparini, P.2    Chillaron, J.3
  • 5
    • 0034099516 scopus 로고    scopus 로고
    • The molecular and genetic base of congenitial transport defects
    • Desjeux JF. The molecular and genetic base of congenitial transport defects. Gut 2000; 46: 585-587.
    • (2000) Gut , vol.46 , pp. 585-587
    • Desjeux, J.F.1
  • 6
    • 0015778236 scopus 로고
    • Genetic screening
    • Harris H, Hirschhorn K (eds). New York: Plenum
    • Levy HI. Genetic screening. In: Harris H, Hirschhorn K (eds). Advances in Human Genetics. New York: Plenum, 1973: 1.
    • (1973) Advances in Human Genetics , pp. 1
    • Levy, H.I.1
  • 7
    • 0025079967 scopus 로고
    • Inherited metabolic disorders in Turkey
    • Özalp I, Coşkun T, Tokol S, et al. Inherited metabolic disorders in Turkey. J Inherit Metab Dis 1990; 13: 732-738.
    • (1990) J Inherit Metab Dis , vol.13 , pp. 732-738
    • Özalp, I.1    Coşkun, T.2    Tokol, S.3
  • 10
    • 0043236110 scopus 로고    scopus 로고
    • Laterality of symptomatic cystine calculi
    • Purahit RS, Stoller ML. Laterality of symptomatic cystine calculi. Urology 2003; 62: 421-424.
    • (2003) Urology , vol.62 , pp. 421-424
    • Purahit, R.S.1    Stoller, M.L.2
  • 11
    • 0011906557 scopus 로고
    • Cystinuria
    • Stanbury JB, Wyngaarden JB, Fredrickson DS (eds). New York: McGraw-Hall Book
    • Samuel O, Stanton S. Cystinuria. In Stanbury JB, Wyngaarden JB, Fredrickson DS (eds). The Metabolic Basis of Inherited Disease (3rd ed). New York: McGraw-Hall Book, 1972: 1504.
    • (1972) The Metabolic Basis of Inherited Disease (3rd Ed.) , pp. 1504
    • Samuel, O.1    Stanton, S.2
  • 12
    • 0027972955 scopus 로고
    • Electrogenic amino acid exchange via the rBAT transporter
    • Coady MJ, Jalal F, Chen X, et al. Electrogenic amino acid exchange via the rBAT transporter. FEBS Lett 1994; 356: 174-178.
    • (1994) FEBS Lett , vol.356 , pp. 174-178
    • Coady, M.J.1    Jalal, F.2    Chen, X.3
  • 13
    • 0029878672 scopus 로고    scopus 로고
    • The basic amino acid transporter (rBAT)-like immunoreactivity in paraventricular and supraoptic magnocellular neurons of the rat hypothalamus
    • Hisano S, Haga H, Miyamoto K, et al. The basic amino acid transporter (rBAT)-like immunoreactivity in paraventricular and supraoptic magnocellular neurons of the rat hypothalamus. Brain Res 1996; 710: 299-302.
    • (1996) Brain Res , vol.710 , pp. 299-302
    • Hisano, S.1    Haga, H.2    Miyamoto, K.3
  • 14
    • 0027237518 scopus 로고
    • Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine
    • Pickel VM, Nirenberg MJ, Chan J, et al. Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine. Proc Nat Acad Sci USA 1993; 90: 7779-7783.
    • (1993) Proc Nat Acad Sci USA , vol.90 , pp. 7779-7783
    • Pickel, V.M.1    Nirenberg, M.J.2    Chan, J.3
  • 15
    • 0031751209 scopus 로고    scopus 로고
    • Molecular biology of mammalian plasma membrane amino acid transporters
    • Palacin M, Esteves R, Bertran J, et al. Molecular biology of mammalian plasma membrane amino acid transporters. Physiol Rev 1998; 78: 969-1054.
    • (1998) Physiol Rev , vol.78 , pp. 969-1054
    • Palacin, M.1    Esteves, R.2    Bertran, J.3
  • 16
    • 0032145955 scopus 로고    scopus 로고
    • Cystinuria calls for heteromultimeric amino acid transporters
    • Palacin M, Esteves R, Zorzano A. Cystinuria calls for heteromultimeric amino acid transporters. Curr Opin Cell Biol 1998; 10: 455-461.
    • (1998) Curr Opin Cell Biol , vol.10 , pp. 455-461
    • Palacin, M.1    Esteves, R.2    Zorzano, A.3
  • 17
    • 0036422749 scopus 로고    scopus 로고
    • Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria
    • Lahme S, Bichler KH, Eggermann T, et al. Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria. Urol Int 2002; 69: 207-211.
    • (2002) Urol Int , vol.69 , pp. 207-211
    • Lahme, S.1    Bichler, K.H.2    Eggermann, T.3
  • 18
    • 0028309007 scopus 로고
    • Localization of a gene causing cystinuria to chromosome 2p
    • Pras E, Arber N, Aksentijevich I, et al. Localization of a gene causing cystinuria to chromosome 2p. Nat Genet 1994; 6: 415-419.
    • (1994) Nat Genet , vol.6 , pp. 415-419
    • Pras, E.1    Arber, N.2    Aksentijevich, I.3
  • 19
    • 16944366211 scopus 로고    scopus 로고
    • Localization by linkage analysis of the cystinuria type III gene to chromosome 19q13.1
    • Bisceglia L, Calonge MJ, Totaro A et al. Localization by linkage analysis of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 1997; 60: 611-616.
    • (1997) Am J Hum Genet , vol.60 , pp. 611-616
    • Bisceglia, L.1    Calonge, M.J.2    Totaro, A.3
  • 20
    • 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 1997; 60: 617-624.
    • (1997) Am J Hum Genet , vol.60 , pp. 617-624
    • Wartenfeld, R.1    Golomb, E.2    Katz, G.3
  • 21
    • 0034004788 scopus 로고    scopus 로고
    • Identification of five movel SLC3A1 (rBAT) gene mutations in Japanese cystinuria
    • Egoshi KI, Akakura K, Kodama T, Ito H. Identification of five movel SLC3A1 (rBAT) gene mutations in Japanese cystinuria. Kidney Int 2000; 57: 25-32.
    • (2000) Kidney Int , vol.57 , pp. 25-32
    • Egoshi, K.I.1    Akakura, K.2    Kodama, T.3    Ito, H.4
  • 22
    • 0029986520 scopus 로고    scopus 로고
    • Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients
    • Sanctis L, Bruno M, Bonetti G, et al. Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients. J Inherit Metab Dis 1996; 19: 243-245.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 243-245
    • Sanctis, L.1    Bruno, M.2    Bonetti, G.3
  • 23
    • 0035317437 scopus 로고    scopus 로고
    • Molecular genetic analyses of cystinuria type in 24 Turkish patients
    • Dayangaç D, Kalkanoǧlu HS, Aydoǧdu SD, et al. Molecular genetic analyses of cystinuria type in 24 Turkish patients. Turk J Pediatr 2001; 43: 110-113.
    • (2001) Turk J Pediatr , vol.43 , pp. 110-113
    • Dayangaç, D.1    Kalkanoǧlu, H.S.2    Aydoǧdu, S.D.3
  • 24
    • 85039896140 scopus 로고
    • Cystinuria: Biochemical evidence of three genetically distinct diseases
    • Rosenberg L, Dowing S, Durant J, et al. Cystinuria: biochemical evidence of three genetically distinct diseases. J Clin Invest 1966; 45: 635-671.
    • (1966) J Clin Invest , vol.45 , pp. 635-671
    • Rosenberg, L.1    Dowing, S.2    Durant, J.3
  • 25
    • 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 2002; 62: 1550-1559.
    • (2002) Kidney Int , vol.62 , pp. 1550-1559
    • Leclerc, D.1    Boutros, M.2    Suh, D.3
  • 27
    • 0034030771 scopus 로고    scopus 로고
    • When and how to evaluate a patient with nephrolithiasis
    • Rivers K. When and how to evaluate a patient with nephrolithiasis. Urol Clin North Am 2000; 27: 203-213.
    • (2000) Urol Clin North Am , vol.27 , pp. 203-213
    • Rivers, K.1
  • 29
    • 0035154023 scopus 로고    scopus 로고
    • A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria
    • Fjellstedt E, Denneberg T, Jeppsson JO, et al. A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria. Urol Res 2001; 29: 295-302.
    • (2001) Urol Res , vol.29 , pp. 295-302
    • Fjellstedt, E.1    Denneberg, T.2    Jeppsson, J.O.3
  • 30
    • 0014369244 scopus 로고
    • Treatment of cystinuria with α-mercaptopropionylglycine: A preliminary report with some notes on column chromatography of mercaptans
    • King JS. Treatment of cystinuria with α-mercaptopropionylglycine: a preliminary report with some notes on column chromatography of mercaptans. Proc Soc Exp Biol Med 1968; 129: 927-932.
    • (1968) Proc Soc Exp Biol Med , vol.129 , pp. 927-932
    • King, J.S.1
  • 31
    • 0034007656 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: Critical reappraisal of long-term results
    • Barbey F, Joly D, Rieu P, Mejean A, Daudon M, Jungers P. Medical treatment of cystinuria: critical reappraisal of long-term results. J Urol 2000; 163: 1419-1423.
    • (2000) J Urol , vol.163 , pp. 1419-1423
    • Barbey, F.1    Joly, D.2    Rieu, P.3    Mejean, A.4    Daudon, M.5    Jungers, P.6
  • 32
    • 0034681703 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: Evalution of long-terms results in 30 patients
    • Barbey F, Joly D, Rieu P, N'Guessau K, Daudon M, Jungers P. Medical treatment of cystinuria: evalution of long-terms results in 30 patients. Presse Med 2000; 29: 528-532.
    • (2000) Presse Med , vol.29 , pp. 528-532
    • Barbey, F.1    Joly, D.2    Rieu, P.3    N'Guessau, K.4    Daudon, M.5    Jungers, P.6
  • 34
    • 0029029225 scopus 로고
    • Clinical effect of captopril on the formation and growth of cystine calculi
    • Cohen TD, Stream SB, Hall P. Clinical effect of captopril on the formation and growth of cystine calculi. J Urol 1995; 154: 164-166.
    • (1995) J Urol , vol.154 , pp. 164-166
    • Cohen, T.D.1    Stream, S.B.2    Hall, P.3
  • 35
    • 0023237673 scopus 로고
    • Captopril reduces urinary cystine excretion in cystinuria
    • Sloand JA, Izzo JL Jr. Captopril reduces urinary cystine excretion in cystinuria. Arch Intern Med 1987; 147: 1409-1412.
    • (1987) Arch Intern Med , vol.147 , pp. 1409-1412
    • Sloand, J.A.1    Izzo Jr., J.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.