-
1
-
-
0028237714
-
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
-
Calonge M, Gaspariní J, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, Barcelo P, Estivill X, Zorzano A, Nunes V, Palacin M. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 1994; 6:420
-
(1994)
Nat Genet
, vol.6
, pp. 420
-
-
Calonge, M.1
Gaspariní, J.2
Chillaron, J.3
Chillon, M.4
Gallucci, M.5
Rousaud, F.6
Zelante, L.7
Testar, X.8
Dallapiccola, B.9
Di Silverio, F.10
Barcelo, P.11
Estivill, X.12
Zorzano, A.13
Nunes, V.14
Palacin, M.15
-
2
-
-
0029554681
-
Progrès dans le génétique de la cystinuria
-
Rousad F, Rousad A, Nunes V, Barcel P, Palacin M. Progrès dans le génétique de la cystinuria. Ann Urol 1995; 29:346
-
(1995)
Ann Urol
, vol.29
, pp. 346
-
-
Rousad, F.1
Rousad, A.2
Nunes, V.3
Barcel, P.4
Palacin, M.5
-
3
-
-
0028309007
-
Localization of a gene causing cystinuria to chromosome 2p
-
Pras E, Arber N, Aksentijevich J, Katz G, Shapiro JM, Prosen L, Groberg L, Harel D, Liberman U, Weissenbach J, Pras M, Kastner DL. Localization of a gene causing cystinuria to chromosome 2p.Nat Genet 1994; 6:415
-
(1994)
Nat Genet
, vol.6
, pp. 415
-
-
Pras, E.1
Arber, N.2
Aksentijevich, J.3
Katz, G.4
Shapiro, J.M.5
Prosen, L.6
Groberg, L.7
Harel, D.8
Liberman, U.9
Weissenbach, J.10
Pras, M.11
Kastner, D.L.12
-
5
-
-
18544381349
-
Comparision between SLC3A1 and SLC7A9 cystinuria patients and carriers: A need for a new classification
-
Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, De Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacin M, Rizzoni G. Comparision between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 2002; 13:2547
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2547
-
-
Dello Strologo, L.1
Pras, E.2
Pontesilli, C.3
Beccia, E.4
Ricci-Barbini, V.5
De Sanctis, L.6
Ponzone, A.7
Gallucci, M.8
Bisceglia, L.9
Zelante, L.10
Jimenez, M.11
Font, M.12
Zorzano, A.13
Rousaud, F.14
Nunes, V.15
Gasparini, P.16
Palacin, M.17
Rizzoni, G.18
-
6
-
-
0037357799
-
Mutation analysis of SLC7A9 in cystinuria patients in Sweden
-
Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Soderkvist P. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Genet Test 2003; 7:13
-
(2003)
Genet Test
, vol.7
, pp. 13
-
-
Harnevik, L.1
Fjellstedt, E.2
Molbaek, A.3
Denneberg, T.4
Soderkvist, P.5
-
8
-
-
0020531249
-
The incidence of cystinuria in Japan
-
Ito H, Murakami M, Miyauchi T, Mori I, Yamaguchi K, Usui T, Shimazaki J. The incidence of cystinuria in Japan. J Urol 1983; 129:1012
-
(1983)
J Urol
, vol.129
, pp. 1012
-
-
Ito, H.1
Murakami, M.2
Miyauchi, T.3
Mori, I.4
Yamaguchi, K.5
Usui, T.6
Shimazaki, J.7
-
9
-
-
8144229462
-
Cystinuria in Sweden. II. The incidence of homozygous cystinuria in Swedish schoolchildren
-
Bostrom H, Tottie K. Cystinuria in Sweden. II. The incidence of homozygous cystinuria in Swedish schoolchildren. Acta Paediatr Scand 1959, 48:345
-
(1959)
Acta Paediatr Scand
, vol.48
, pp. 345
-
-
Bostrom, H.1
Tottie, K.2
-
11
-
-
8144228980
-
The occurrence of cystinuria in healthy young men and women
-
Lewis HB: The occurrence of cystinuria in healthy young men and women. Ann Intern Med 1932; 6:183
-
(1932)
Ann Intern Med
, vol.6
, pp. 183
-
-
Lewis, H.B.1
-
12
-
-
0014930662
-
Aminoacid excretion in infancy and early childhood: A survey of 100,000 infants
-
Turner B, Brown DA. Aminoacid excretion in infancy and early childhood: a survey of 100,000 infants. Med J Aust 1970; 1:11
-
(1970)
Med J Aust
, vol.1
, pp. 11
-
-
Turner, B.1
Brown, D.A.2
-
13
-
-
10744223262
-
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
-
Feliubadalo L, Arbones ML, Manas S, Chillaron J, Visa J, Rodes M, Rousaud F, Zorzano A, Palacin M, Nunes V. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis Hum Mol Genet 2003; 12:2097
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2097
-
-
Feliubadalo, L.1
Arbones, M.L.2
Manas, S.3
Chillaron, J.4
Visa, J.5
Rodes, M.6
Rousaud, F.7
Zorzano, A.8
Palacin, M.9
Nunes, V.10
-
15
-
-
0016691969
-
Pediatric nephrolithiasis
-
Malek RS, Kelalis PP. Pediatric nephrolithiasis. J Urol 1975; 113:545
-
(1975)
J Urol
, vol.113
, pp. 545
-
-
Malek, R.S.1
Kelalis, P.P.2
-
16
-
-
8144228433
-
Pharmacological management of cystine nephrolithiasis: 10 years experience
-
Bologna, Monduzzi Editore
-
Trinchieri A, Luongo P, Rovera F, Nespoli R, Colombo F, Guarneri A, Montanari E, Zanetti G, Austoni E. Pharmacological management of cystine nephrolithiasis: 10 years experience In Urology 1992. Bologna, Monduzzi Editore, 1992, p 63
-
(1992)
Urology 1992
, pp. 63
-
-
Trinchieri, A.1
Luongo, P.2
Rovera, F.3
Nespoli, R.4
Colombo, F.5
Guarneri, A.6
Montanari, E.7
Zanetti, G.8
Austoni, E.9
-
17
-
-
0018691513
-
Effect of glutamine on cystine excretion in a patient with cystinuria
-
Miyagi K, Nakada F, Ohshiro S. Effect of glutamine on cystine excretion in a patient with cystinuria. N Engl J Med 1979; 301:196
-
(1979)
N Engl J Med
, vol.301
, pp. 196
-
-
Miyagi, K.1
Nakada, F.2
Ohshiro, S.3
-
18
-
-
8144225111
-
Long-term observation of young cystinuric patients under ascorbic acid therapy
-
Lux B, May P. Long-term observation of young cystinuric patients under ascorbic acid therapy. Urol Int 1983; 301:196
-
(1983)
Urol Int
, vol.301
, pp. 196
-
-
Lux, B.1
May, P.2
-
20
-
-
0014366404
-
Mechanisms of action of D-penicillamine and n-acetyl-penicillamine in the therapy of cystinuria
-
Stokes GS, Potta JT Jr, Lotz M, Barterr FC. Mechanisms of action of D-penicillamine and n-acetyl-penicillamine in the therapy of cystinuria. Clin Sci 1968; 35:467
-
(1968)
Clin Sci
, vol.35
, pp. 467
-
-
Stokes, G.S.1
Potta Jr., J.T.2
Lotz, M.3
Barterr, F.C.4
-
21
-
-
0014369244
-
Treatment of cystinuria with alpha-mercapto- Propyonilgiycine: A preliminary report with some notes on column chromatography of mercaptans
-
King JS Jr. Treatment of cystinuria with alpha-mercapto- propyonilgiycine: a preliminary report with some notes on column chromatography of mercaptans. Proc Soc Exp Biol Med 1968; 129:927
-
(1968)
Proc Soc Exp Biol Med
, vol.129
, pp. 927
-
-
King Jr., J.S.1
-
22
-
-
0023032829
-
Management of cystine nephrolithiasis with alpha-mercapto- propionylglycine
-
Pak CYC, Fuller C, Sakhaee K, Zerwekh JE, Adams BV. Management of cystine nephrolithiasis with alpha-mercapto-propionylglycine. J Urol 1986; 136:1003
-
(1986)
J Urol
, vol.136
, pp. 1003
-
-
Pak, C.Y.C.1
Fuller, C.2
Sakhaee, K.3
Zerwekh, J.E.4
Adams, B.V.5
-
23
-
-
0023237673
-
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
-
(1987)
Arch Intern Med
, vol.147
, pp. 1409
-
-
Sloand, J.A.1
Izzo Jr., J.L.2
-
24
-
-
0023617474
-
Percutaneous renal calculus removal in an extracorporeal shock wave lithotripsy practice
-
Leroy AJ, Segura JW, Williams HJJr, Patterson DE. Percutaneous renal calculus removal in an extracorporeal shock wave lithotripsy practice. J Urol 1987; 138:703
-
(1987)
J Urol
, vol.138
, pp. 703
-
-
Leroy, A.J.1
Segura, J.W.2
Williams Jr., H.J.3
Patterson, D.E.4
-
25
-
-
0021326287
-
Thiol-disulfide interchange between cystine and N-2-mercaptothyl-1,3- diaminopropane as a potential treatment for cystinuria
-
Blackburn P, Peterson CM. Thiol-disulfide interchange between cystine and N-2-mercaptothyl-1,3-diaminopropane as a potential treatment for cystinuria. Anal Biochem 1984; 136:31
-
(1984)
Anal Biochem
, vol.136
, pp. 31
-
-
Blackburn, P.1
Peterson, C.M.2
-
26
-
-
0021367952
-
Combination of chemolysis and shock wave lithotripsy in the treatment of cystine renal calculi
-
Schmeller NT, Kersting H, Schuller J, Chaussy C, Schmiedt E. Combination of chemolysis and shock wave lithotripsy in the treatment of cystine renal calculi. J Urol 1984; 131: 434
-
(1984)
J Urol
, vol.131
, pp. 434
-
-
Schmeller, N.T.1
Kersting, H.2
Schuller, J.3
Chaussy, C.4
Schmiedt, E.5
-
27
-
-
0043194082
-
Experience with instrumental chemolysis for urolithiasis
-
Dormia E, Dormia G, Malagola G, Minervini S. Experience with instrumental chemolysis for urolithiasis. J Urol 2003; 170:1-105
-
(2003)
J Urol
, vol.170
, pp. 1-105
-
-
Dormia, E.1
Dormia, G.2
Malagola, G.3
Minervini, S.4
|