-
1
-
-
0002772644
-
Cystinuria
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York, McGraw-Hill
-
Segal S, Thier SO: Cystinuria; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, ed 6. New York, McGraw-Hill, 1987, p 2479-2496.
-
(1987)
The Metabolic Basis of Inherited Disease, Ed 6
, pp. 2479-2496
-
-
Segal, S.1
Thier, S.O.2
-
3
-
-
0020531249
-
The incidence of cystinuria in Japan
-
Ito H, Murakami M, Miyaichi T, Mori I, Yamaguchi K, Usui T, Shimazaki J: The incidence of cystinuria in Japan. J Urol 1983;129: 1012-1014.
-
(1983)
J Urol
, vol.129
, pp. 1012-1014
-
-
Ito, H.1
Murakami, M.2
Miyaichi, T.3
Mori, I.4
Yamaguchi, K.5
Usui, T.6
Shimazaki, J.7
-
5
-
-
0019976184
-
Conservative treatment of cystine calculi: Effect of oral alpha-mercaptopropionylglycine on cystine stone disolution and on prevention of stone recurrence
-
Koide T, Kinoshita K, Takemoto M, Yachiku S, Sonoda T: Conservative treatment of cystine calculi: Effect of oral alpha-mercaptopropionylglycine on cystine stone disolution and on prevention of stone recurrence. J Urol 1982; 128:513-516.
-
(1982)
J Urol
, vol.128
, pp. 513-516
-
-
Koide, T.1
Kinoshita, K.2
Takemoto, M.3
Yachiku, S.4
Sonoda, T.5
-
6
-
-
0023032829
-
Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine
-
Pak CYC, Fuller C, Sakhaee K, Zerwekh JE, Adams BV: Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine. J Urol 1986;136:1003-1008.
-
(1986)
J Urol
, vol.136
, pp. 1003-1008
-
-
Pak, C.Y.C.1
Fuller, C.2
Sakhaee, K.3
Zerwekh, J.E.4
Adams, B.V.5
-
7
-
-
0029881323
-
Cystine stones: The efficacy of percutaneous and shock-wave lithotripsy
-
Cranidis AI, Karayannis AA, Delakas DS, Livadas CE, Anezinis PE: Cystine stones: The efficacy of percutaneous and shock-wave lithotripsy. Urol Int 1996;56:180-183.
-
(1996)
Urol Int
, vol.56
, pp. 180-183
-
-
Cranidis, A.I.1
Karayannis, A.A.2
Delakas, D.S.3
Livadas, C.E.4
Anezinis, P.E.5
-
8
-
-
0027303717
-
Extracorporeal shock-wave lithotripsy for treatment of ureterolithiasis in patients with cystinuria
-
Katz G, Kvoalski N, Landau EH: Extracorporeal shock-wave lithotripsy for treatment of ureterolithiasis in patients with cystinuria. Br J Urol 1992;72:13-16.
-
(1992)
Br J Urol
, vol.72
, pp. 13-16
-
-
Katz, G.1
Kvoalski, N.2
Landau, E.H.3
-
9
-
-
0029853391
-
Medical treatment of cystinuria: Results of contemporary clinical practice
-
Chow GK, Streem SB: Medical treatment of cystinuria: Results of contemporary clinical practice. J Urol 1996;156:1576-1578.
-
(1996)
J Urol
, vol.156
, pp. 1576-1578
-
-
Chow, G.K.1
Streem, S.B.2
-
10
-
-
0029045993
-
Clinical course and cystine stone formation during tiopronin treatment
-
Lindell A, Denneberg T, Hellgren E, Jeppsson J-O, Tiselius H-G: Clinical course and cystine stone formation during tiopronin treatment. Urol Res 1995;23:111-117.
-
(1995)
Urol Res
, vol.23
, pp. 111-117
-
-
Lindell, A.1
Denneberg, T.2
Hellgren, E.3
Jeppsson, J.-O.4
Tiselius, H.-G.5
-
12
-
-
0029029225
-
Clinical effect of captopril on the formation and growth of cystine calculi
-
Cohen TD, Streem 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
Streem, S.B.2
Hall, P.3
-
13
-
-
0013887059
-
Cystinuria: Biochemical evidence for three genetically distinct diseases
-
Rosenberg LE, Downing S, Durant JL, Segal S: Cystinuria: Biochemical evidence for three genetically distinct diseases. J Clin Invest 1966; 45:365-371.
-
(1966)
J Clin Invest
, vol.45
, pp. 365-371
-
-
Rosenberg, L.E.1
Downing, S.2
Durant, J.L.3
Segal, S.4
-
14
-
-
0027326170
-
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, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacin M: 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
Nunes, V.4
Biber, J.5
Testar, X.6
Zorzano, A.7
Estivill, X.8
Murer, H.9
Palacin, M.10
-
15
-
-
0028785882
-
Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to type I but not to type III cystinuria
-
Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M: Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 1995;92:9667-9671.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 9667-9671
-
-
Calonge, M.J.1
Volpini, V.2
Bisceglia, L.3
Rousaud, F.4
De Sanctis, L.5
Beccia, E.6
Zelante, L.7
Testar, X.8
Zorzano, A.9
Estivill, X.10
Gasparini, P.11
Nunes, V.12
Palacin, M.13
-
16
-
-
0029100842
-
Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
-
Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, Estivill X, Zorzano A, Palacin M, Nunes V, Zelante L: Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet 1995;57:781-788.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 781-788
-
-
Gasparini, P.1
Calonge, M.J.2
Bisceglia, L.3
Purroy, J.4
Dianzani, I.5
Notarangelo, A.6
Rousaud, F.7
Gallucci, M.8
Testar, X.9
Ponzone, A.10
Estivill, X.11
Zorzano, A.12
Palacin, M.13
Nunes, V.14
Zelante, L.15
-
17
-
-
0029027356
-
Mutations in the SLC3A1 transporter gene in cystinuria
-
Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M, Kastner DL: Mutations in the SLC3A1 transporter gene in cystinuria. Am J Hum Genet 1995;56:1297-1303.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1297-1303
-
-
Pras, E.1
Raben, N.2
Golomb, E.3
Arber, N.4
Aksentijevich, I.5
Schapiro, J.M.6
Harel, D.7
Katz, G.8
Liberman, U.9
Pras, M.10
Kastner, D.L.11
-
18
-
-
0029934548
-
Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in type I patients
-
Horsford J, Saadi I, Raelson J, Goodyer PR, Rozen R: Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in type I patients. Kindey Int 1996; 49:1401-1406.
-
(1996)
Kindey Int
, vol.49
, pp. 1401-1406
-
-
Horsford, J.1
Saadi, I.2
Raelson, J.3
Goodyer, P.R.4
Rozen, R.5
|