cystine and Cystinosis

cystine has been researched along with Cystinosis in 433 studies

Research

Studies (433)

TimeframeStudies, this research(%)All Research%
pre-1990246 (56.81)18.7374
1990's38 (8.78)18.2507
2000's49 (11.32)29.6817
2010's56 (12.93)24.3611
2020's44 (10.16)2.80

Authors

AuthorsStudies
Baatsen, P; Baelde, HJ; Berlingerio, SP; Cairoli, S; De Groef, L; de Witte, P; Goffredo, B; He, J; Levtchenko, E; Norton, T; Taeter, H; van den Heuvel, L1
Grebe, J; Grüneberg, M; Harms, E; Klank, S; Marquardt, T; Ottolenghi, C; Reunert, J; van Stein, C1
Hohenfellner, K; Keidel, L; Luft, N; Priglinger, C; Priglinger, S; Schworm, B1
Harms, E; Herzig, N; Hohenfellner, K; Holla, H; Knerr, C; Köppl, C; Landfarth, T; Müller-Felber, W; Steidle, G; Vill, K1
Janssen, MJ; Masereeuw, R; Sendino Garví, E1
Berquez, M; Camassei, FD; Cremonesi, A; Devuyst, O; Dewulf, J; Emma, F; Festa, BP; Gerth-Kahlert, C; Hanson, JVM; Harvent, M; Krohn, P; Luciani, A; Rega, LR; Taranta, A1
Boddaert, N; Boisgontier, J; Hummel, A; Saitovitch, A; Servais, A1
Graceffa, V1
Bazin, D; Belletti, G; Colombo, E; Daudon, M; Frochot, V; Hessou, EP; Li, K; Lucas, IT; Moussadik, A; Quaino, P; Rouzière, S; Su, Y; Tielens, F1
Gholami Yarahmadi, S; Morovvati, S; Sarlaki, F1
Amri, Y; Azzouz, WB; Boudabous, H; Chabchoub, I; Chkioua, L; Ferchichi, S; Ghorbel, M; Laradi, S; Mabrouk, S; Massoud, T; Mili, W; Saheli, C; Tebib, N; Turkia, HB1
Csorba, A; Kelen, K; Maka, E; Nagy, ZZ; Reusz, G; Szabó, A1
Canalini, F; Cassiman, D; Emma, F; Goffredo, BM; Levtchenko, E; Montini, G; Pennesi, M; Peruzzi, L; Rossi, S; Verrina, E1
Cairns, D; Hector, E; Michael Wall, G1
Gahl, WA; Haffner, D; Hohenfellner, K; Nießl, C; Oh, J; Okorn, C; Palm, K; Schlingmann, KP; Wygoda, S1
El Omari, K; Löbel, M; Newstead, S; Parker, JL; Salphati, SP; Tucker, SJ; Wagner, A1
Beck, BB; Bieniaś, B; Grenda, R; Kieć-Wilk, B; Kowalczyk, M; Marquardt, T; Nosek, H; Rubik, J; Sikora, P; Surowiec, P; Szymczak, M; Zaniew, M1
Balachandran, P; Daruish, M; Kiely, C; Kwan, Z; Stefanato, CM1
Battafarano, G; Bellomo, F; Cairoli, S; Camassei, FD; D'Oria, V; De Leo, E; Del Fattore, A; Emma, F; Goffredo, BM; Pezzullo, M; Polishchuk, E; Polishchuk, R; Raso, R; Rega, LR; Taranta, A1
Addobbati, R; Decorti, G; Del Savio, R; Franzin, M; Rossetto, S; Ruoso, R; Stocco, G1
Al-Sabban, E; Alsaad, KO; Berlingerio, SP; Bondue, T; Kouraich, A; Levtchenko, E; Marie, S; van den Heuvel, L; Veys, K1
Keidel, LF; Kruse, F; Luft, N; Priglinger, C; Priglinger, S1
Alzahrani, K; Biswas, S; Radhakrishnan, H1
Baysal, İ; Eylem, CC; Gök-Topak, ED; Gulhan, B; Kır, S; Nemutlu, E; Ozaltin, F; Sezerman, OU; Topaloglu, R; Ucar, G; Ulubayram, K; Yabanoglu-Ciftci, S1
Haffner, D; Hohenfellner, K; Zerell, K1
Hohenfellner, K; Keidel, LF; Kruse, F; Luft, N; Priglinger, C; Priglinger, S; Schworm, B1
Aase, SA; Bjerre, A; Brackman, D; Forsberg, B; Gudmundsdottir, H; Radtke, M; Siva, C; Woldseth, B1
Amlal, H; Cheng, YC; Dong, F; Fry, M; Hu, YC; Kao, WW; Venkatakrishnan, J; Yuan, Y; Zhang, J1
Berquez, M; Chen, Z; Devuyst, O; Domenici, E; Festa, BP; Gaponova, A; Keller, SA; Korzinkin, M; Krohn, P; Laczko, E; Luciani, A; Parolo, S1
Hahn, SH; Li, M; Thoene, J; Venkatarangan, V; Yang, X; Zhang, W1
Antignac, C; Cairoli, S; Courtoy, GE; Courtoy, PJ; Emma, F; Goffredo, BM; Graversen, JH; Janssens, V; Jouret, F; Moestrup, SK; Nevo, N; Pierreux, CE; Rega, LR1
Arcolino, FO; Baelde, HJ; Berlingerio, SP; Bondue, T; Brock, R; Cairoli, S; Dieker, J; Endlich, N; Gijsbers, R; Goffredo, BM; Janssen, MJ; Levtchenko, E; Schindler, M; Sendino-Garví, E; Siegerist, F; van den Heuvel, L1
Bachhawat, AK; Deshpande, AA; Kanakaraj, A; Ravichandran, R; Vashist, N1
Azimpour, K; Carlot, S; Game, D; Lashilola, S; McCarthy, M; van der Voort, J; Xu, W1
Anglicheau, D; Antignac, C; Boddaert, N; Boisgontier, J; Funalot, B; Hummel, A; Legendre, C; Lemaitre, H; Pontoizeau, C; Saitovitch, A; Sberro-Soussan, R; Scemla, A; Servais, A; Snanoudj, R1
Antignac, C; Christensen, EI; Courtoy, PJ; Gaide Chevronnay, HP; Janssens, V; Jouret, F; Marie, S; Nevo, N; Nielsen, R; Pierreux, CE; Vainio, S; Van Der Smissen, P; Vincent, MF1
Akpa, MM; Alroy, I; Brasell, EJ; Chu, LL; Corsini, R; Eshkar-Oren, I; Gilfix, BM; Goodyer, P; Huertas, P; Yamanaka, Y1
Canbay, E; Çoker, M; Sezer, ED; Sözmen, EY; Uçar, SK1
D'Souza, RF; Davidson, AJ; Harrison, PT; Hollywood, JA; Holm, TM; Przepiorski, A; Sreebhavan, S; Wolvetang, EJ1
Cornelissen, EAM; Elmonem, MA; Hohenfellner, K; Janssen, MC; Levtchenko, E; Prencipe, G; van den Heuvel, LP; Van Dyck, M; Veys, KRP1
Topaloglu, R1
Akhan, O; Çiftci, T; Demir, H; Demir, N; Gülhan, B; Gültekingil, A; Ozaltin, F; Temucin, ÇM; Topaloglu, R; Yuce, A1
Adelmann, CH; Chan, SH; Chen, B; Condon, KJ; Kunchok, T; Lewis, CA; Sabatini, DM; Traunbauer, AK1
Antignac, C; Bengali, M; Cherqui, S; Dohil, MA; Dohil, R; Goodman, S; Hernandez, L; Jain, S; Lobry, T; Newbury, R; Sun, X1
Chauhan, A; Kompella, UB; Liu, Z1
Antignac, C; Ariceta, G; Bertholet-Thomas, A; Bettini, C; Bockenhauer, D; Collin, S; Cornelissen, E; Deschênes, G; Devuyst, O; Emma, F; Greco, M; Haffner, D; Hoff, WV; Hohenfellner, K; Hulton, S; Janssen, M; Levtchenko, E; Niaudet, P; Novo, R; Oh, J; Ozaltin, F; Pape, L; Ravà, L; Servais, A; Topaloglu, R; Veys, K1
Baudouin, C; Labbé, A; Le Mouhaër, J; Liang, H; Plisson, C1
Alisheri, A; Cabrera-Serrano, M; Junckerstorff, RC; Laing, NG; Lamont, PJ; Pestronk, A; Weihl, CC1
Delibaş, A; Kayacan, UR; Sürmeli Döven, S; Ünal, S1
Brand, E; Canaan-Kuehl, S; Kaufeld, J; Kurschat, C; Oh, J; Pape, L; Weber, LT1
Chauhan, A; Christopher, K; Dixon, P1
Brasell, EJ; Chu, L; El Kares, R; Goodyer, P; Iglesias, DM; Loesch, R; Seo, JH1
Boone, MALM; Cornelissen, EAM; Dhaenens, F; Elmonem, MA; Hohenfellner, K; Janssen, MMCH; Levtchenko, E; Quatresooz, P; Reda, A; van den Heuvel, B; Van Dyck, M; Veys, KRP1
Langman, CB1
Catz, SD; Cherqui, S; Johnson, JL; Monfregola, J; Napolitano, G; Rocca, CJ1
Fujii, Y; Kaneko, K; Kimata, T; Kino, M; Tohda, A1
Baudouin, C; Charbit, M; Deschênes, G; Guest, G; Labbé, A; Loirat, C; Niaudet, P1
Antignac, C; Cherqui, S; Courtoy, PJ; Gaide Chevronnay, HP; Guiot, Y; Janssens, V; Levtchenko, E; Marbaix, E; N'Kuli, F; Nevo, N; Pierreux, CE; Van Der Smissen, P1
Caiello, I; Cherqui, S; De Benedetti, F; Emma, F; Petrini, S; Prencipe, G; Whisenant, T1
Chevalier, RL1
Besbas, N; Bilginer, Y; Gultekingil Keser, A; Topaloglu, R1
Gajjar, P; Leisegang, F; Nandhlal, J; Nourse, P; Owen, EP; Van der Watt, G1
Abdelaziz, H; Abdelrahman, SM; Arcolino, FO; Bossuyt, X; Cornelissen, EA; Elmonem, MA; Gaide Chevronnay, HP; Hassan, FA; Janssen, MC; Joosten, LA; Lefeber, DJ; Levtchenko, E; Makar, SH; Nabhan, MM; Soliman, NA; van den Heuvel, L1
Cambazard, F; Cinotti, E; Labeille, B; Perrot, JL1
Bernardini, I; Gahl, WA; Nesterova, G; Williams, C1
Catz, SD; Cherqui, S; He, J; Johnson, JL; Monfregola, J; Napolitano, G; Pestonjamasp, K; Rocca, CJ1
Lyou, Y; Nangia, CS; Zhao, X1
Sade, S; Stevens, MS; Walsh, S1
Sthel, VM; Vicari, P1
Mauvieux, L; Monier, L1
Cherqui, S; Courtoy, PJ; Gaide Chevronnay, HP; Janssens, V; Liao, XH; Pierreux, CE; Refetoff, S; Rocca, CJ; Van Der Smissen, P1
Barshop, BA; Gangoiti, JA; Gertsman, I; Holmes, B; Johnson, WS; Nishikawa, C1
Ballabio, A; Bellomo, F; Catz, SD; Emma, F; Medina, DL; Montefusco, S; Napolitano, G; Pastore, A; Piemonte, F; Polishchuk, E; Polishchuk, R; Rega, LR; Taranta, A; Tozzi, G; Zhang, J1
Elmonem, MA; Levtchenko, E; Soliman, NA; van den Heuvel, LP; van Dyck, M; Veys, KR1
Barshop, BA; Deschênes, G; Emma, F; Goodyer, P; Langman, CB; Levtchenko, EN; Lipkin, G; Midgley, JP; Ottolenghi, C; Servais, A; Soliman, NA; Thoene, JG1
Ahlenstiel-Grunow, T; Drube, J; Froede, K; Kanzelmeyer, NK; Kreuzer, M; Lerch, C; Pape, L1
Acharya, G; Isenhart, LC; Jester, JV; Lee, B; Li, F; Liu, X; Marcano, DC; Pflugfelder, SC; Shin, CS; Simpson, J1
Bellomo, F; De Leo, E; De Matteis, MA; Emma, F; Pastore, A; Petrini, S; Polishchuk, E; Polishchuk, R; Rega, LR; Taranta, A1
Cherqui, S; Courtoy, PJ1
Arcolino, FO; Baelde, HJ; de Witte, PA; Elmonem, MA; Khalil, R; Khodaparast, L; Levtchenko, E; Lowe, M; Morgan, J; Ny, A; Pastore, A; Tylzanowski, P; van den Heuvel, LP1
Arevalo, JF; Kozak, I; Shoughy, SS1
Antignac, C; Disson, O; Dubois, G; Hippert, C; Ibanes, S; Jacquet, C; Kalatzis, V; Kremer, EJ; Morin, C; Schwendener, R1
DeVilliers, P; Gutta, R; Szymela, VF1
Ahishali, B; Altunsoy, M; Kocabora, MS; Ozbilen, KT; Taskapili, M1
Besouw, MT; Janssen, MC; Kremer, JA; Levtchenko, EN1
Berger, JR; Dillon, DA; Goldstein, SJ; Nelson, P; Young, BA1
Barshop, BA; Fidler, MC; Gangoiti, JA; Schneider, JA1
Baudouin, C; Charbit, M; Guest, G; Labbé, A; Loirat, C; Niaudet, P1
Bava, S; Frank, LR; Hesselink, JR; May, SJ; Sach, M; Theilmann, RJ; Trauner, DA; Vu, D1
Feksa, LR; Figueiredo, VC; Wannmacher, CM1
Coelho, D; Macário, MC; Murta, J; Quadrado, MJ; Tavares, R; Torres, A1
Horváth, Z; Vécsei, L1
Antignac, C; Bailleux, A; Chol, M; Devuyst, O; Gubler, MC; Kalatzis, V; Morisset, L; Nevo, N1
Dakshinamurty, KV; Prasad, N; Ram, R; Reddy, PN; Swarnalatha, G1
Barshop, BA; Cabrera, BL; Dohil, R; Fidler, M; Gangoiti, JA; Schneider, JA1
Larsen, CP; Thoene, JG; Walker, PD1
Emma, F; Levtchenko, EN; Wilmer, MJ1
Grünfeld, JP; Servais, A1
Alp, H; Çayır, A; Koşan, C; Özkan, B1
Cherqui, S; Flynn, K; Jester, B; Jester, J; Nien, CJ; Simpson, J1
Bahadoran, P; Ballotti, R; Berard, E; Cailliez, M; Chiavérini, C; Guest, G; Kang, HY; Lacour, JP; Niaudet, P; Ortonne, JP; Sillard, L1
Flynn, KJ; Jester, JV; Nien, CJ; Simpson, JL1
Bouazza, N; Chadefaux-Vekemans, B; Deschenes, G; Niaudet, P; Ottolenghi, C; Ricquier, D; Tréluyer, JM; Urien, S1
Carrigg, A; Dohil, R; Newbury, R1
Bagger, MJ; Cochat, P; Cornelissen, E; Deschênes, G; Gaillard, S; Greenbaum, LA; Grimm, P; Langman, CB; Matossian, D; Morin, D; Niaudet, P; Rioux, P; Sarwal, M1
Buchan, B; Cairns, D; Kay, G; Matthews, KH1
Abdulsalam, AH; Bain, BJ; Khamis, MH1
Bellomo, F; Besouw, M; Chu, L; El-Kares, R; Eliopoulos, N; Emma, F; Goodyer, P; Iglesias, DM; Levtchenko, E; Taranta, A; Toelen, J; van den Heuvel, L; Young, YK; Zhao, J1
Arias, A; García-Villoria, J; Hernández-Pérez, JM; Ribes, A1
Cherqui, S; Harrison, F; Kohn, DB; Rocca, CJ; Salomon, DR; Yeagy, BA1
Gahl, WA; Schneider, JA; Thoene, JG1
Cualing, H; Gebrail, F; Knapp, M; Perotta, G1
Abitbol, M; Antignac, C; Broyer, M; Cherqui, S; Gogat, K; Gubler, MC; Hamard, G; Kalatzis, V; Pequignot, MO; Sevin, C; Sich, M1
Antignac, C; Kalatzis, V1
Dixit, MP; Greifer, I1
Pintos, G1
GUILD, HG; HOOVER, RE; WALSH, FB1
BROWN, RJ1
BENTEGEAT, J; DUPUY, P; VERGER, P2
TABENKIN, PA; WEINBERG, SR1
KENNEDY, JA1
BICKEL, H2
BROENDSTRUP, P1
CLARKE, BE; JACKSON, HF1
HELLNER, E; LINNEWEH, F1
LIGNAC, GO2
WEBER, H1
FREUDENBERG, E2
SCHWARZ, W1
CAUSSADE, L; NEIMANN, N; PIERSON, M1
MACDONALD, WB; MOORE, AE; PERRY, JW1
FAGG, G1
DEBRE, R; ROYER, P1
AUSSANNAIRE, M; CARAMANIAN, M; JAMMET, ML; LAMY, M1
FREUDENBERG, E; ROULET, F1
BURKI, E1
FANCONI, G; PARKER, WS; PRADER, A1
DELBEKE, MJ; HOOFT, C1
COGAN, DG; KINOSHITA, J; KUWABARA, T; RING, H; SUDARSKY, D1
LOMICKOVA, H1
TIDDENS, HA1
LECOMTE-RAMIOUL, S1
SCHIAVINI, CA2
JEUNE, M2
BRUNEAU, Y; GRISLAIN, JR; KERNEIS, JB; LEMOINE, P1
SAUTER, EK1
DERN, PL1
COGAN, DG; KINOSHITA, J; KUWABARA, T; MEROLA, L; SHEEHAN, L1
DORITIS, C; PAUL, JR; SKINNER, W1
KRETCHMER, N1
HARPER, HA; KOLB, FO; SMITH, DR1
FANCONI, G; PRADER, A1
LINNEWEH, F; WILLENBOCKEL, U1
ANTENER, I; BERGER, H; BRECHBUEHLER, T; STALDER, G1
GIOACCHINI, B; LOMBARDI, R; MEMEO, SA1
LINNEWEH, F2
FRAZIER, PD; LIETMAN, PS; SEEGMILLER, JE1
KUHN, RJ; PETERSON, BJ1
PATRICK, AD2
BARTHELMAI, W; GRAUL, EH; HUNDESHAGEN, H; KIRSTEN, E; KIRSTEN, R; LINNEWEH, F; SCHAUMLOEFFEL, E1
ALGAN, B; CORDIER, J; THOMAS, C1
Korn, D1
KING, FP; LOCHRIDGE, EP1
DRABLOS, A1
MULLER, HK1
BICKEL, H; SMELLIE, JM1
WILLIAMSON, DA1
KING, WB1
Blom, H; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, M1
Antignac, C; Cherqui, S; Gasnier, B; Kalatzis, V; Nevo, N1
de Souza Wyse, AT; Rosa, TG; Wajner, M; Wannmacher, CM1
Bravo Soto, JA; Cabrera Morales, CM; Cantón, J; Martínez Llamas, MS; Pedrinaci, S1
Blom, H; de Graaf-Hess, A; Levtchenko, E; Monnens, L; van den Heuvel, L; Wilmer, M2
Gauer, IC; Grabenhorst, U; Merz, H1
Ray, TL; Tobias, JD1
Antignac, C; Cherqui, S; Chol, M; Nevo, N; Rustin, P1
Schneider, JA3
Thoene, JG2
de Souza Wyse, AT; Dutra-Filho, CS; Fleck, RM; Giacomazzi, J; Parissoto, D; Rodrigues Junior, V; Wajner, M; Wannmacher, CM1
Broyer, M2
Altay, C; Büyükasik, Y; Coskun, T; Erdemli, E; Kalkanoğlu, HS; Kesimer, M; Okur, H; Olcay, L1
Blom, HJ; de Graaf-Hess, A; Dijkman, HB; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, MJ1
Jackson, M; Young, E1
Alsuhaibani, AH; Khan, AO; Wagoner, MD1
Blom, HJ; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van Dael, CM; van den Heuvel, LP; Wilmer, MJ1
Bradley, KH; Rosenbloom, FM; Schneider, JA; Seegmiller, JE1
Barshop, BA; Deutsch, R; Dohil, R; Fidler, M; Gangoiti, J; Martin, M; Schneider, JA1
Athaydes, GA; De Souza Wyse, AT; Dornelles, PK; Dutra-Filho, CS; Feksa, LR; Rech, VC; Rodrigues-Junior, V; Wajner, M; Wannmacher, CM1
Zachwieja, J1
Duval Wannmacher, CM; Pereira Oliveira, PR; Rech, VC; Rodrigues-Junior, V1
Bhartia, S; Bigley, V; Wood, A1
Aupetit, J; Chabli, A; Chadefaux-Vekemans, B; Raehm, M; Ricquier, D1
Arevalo do Amaral, MF; Dutra-Filho, CS; Duval Wannmacher, CM; Feksa, LR; Koch, GW; Rech, VC; Terezinha de Souza Wyse, A; Wajner, M1
Blom, HJ; de Graaf-Hess, A; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Verkaart, S; Visch, HJ; Willems, PH; Wilmer, MJ1
Antignac, C; Chadefaux-Vekemans, B; Goujon, JM; Grünfeld, JP; Morinière, V; Noël, LH; Servais, A1
Athaydes, GA; Dornelles, PK; Feksa, LR; Fleck, RM; Rech, VC; Rodrigues-Junior, V; Wannmacher, CM1
Borowitz, MJ; Burns, KH; Confer, B; Emadi, A; Streiff, MB1
Bradley, K; Schneider, JA; Seegmiller, JE1
Heinrichs, C; Kühnel, L1
Butler, JD; Spielberg, SP2
Segal, S; States, B2
Dumoulin, R; Frederich, A; Guibaud, P; Louis, JJ; Zabot, MT1
Jonas, AJ; Schneider, JA; Smith, ML1
Bashan, N; Bernardini, I; Gahl, WA; Schulman, JD; Tietze, F2
Kohn, G; Makov, N; Meidan, B; Narinsky, R; Steinherz, R3
Baltassat, P; Bureau, J; Dumoulin, R; Frederich, A; Guibaud, P; Larbre, F; Louis, JJ; Parchoux, B; Zabot, MT1
Schulman, JD; Steinherz, R; Tietze, F1
Feldhoff, CM; Hagge, WW; Swetschin, H1
Harms, E; Oude Elferink, RP; Strijland, A; Tager, JM1
Jonas, AJ; Pellett, OL; Schneider, JA; Smith, ML; Thoene, JG1
Bashan, N; Gahl, WA; Schulman, JD; Tietze, F1
Butler, JD; Zatz, M2
Lemons, RM; Thoene, JG1
Gahl, WA; Raiford, D; Schulman, JD; Steinherz, R; Tietze, F1
Lee, J; Segal, S; States, B3
Greene, AA; Jonas, AJ; Schneider, JA; Smith, ML1
Chiang, H; Gahl, WA; Modesti, A; Schulman, JD; Steinherz, R; Tietze, F; Triche, TJ1
Ajzen, H; Carvalhaes, JT; Mocelin, AJ; Nóbrega, FJ; Ramos, OL1
Bergonzi, E; Bühlmann, C; Herren, A; Lavanchy, P; Lüthy, C; Oetliker, O; Wyss, SR1
Lancaster, GA; Scriver, CR1
Gochman, N; Jonas, AJ; Schneider, JA; Smith, SA1
Gahl, WA; Modesti, A; Schulman, JD; Steinherz, R; Tietze, F; Triche, T1
Bashan, N; Gahl, WA; Schulman, JD; Steinherz, R; Tietze, F1
Witte, AM1
Boman, H; Schneider, JA1
Jonas, AJ; Neal, P; Oshima, RG; Ritchie, DG; Schneider, JA1
Danpure, CJ1
Lemons, R; Thoene, JG2
Danpure, CJ; Fyfe, DA1
Dörner, K; Hake, H; Thiel, HJ; Voigt, GJ; von Denffer, H1
Laino, P; Levine, LS; New, MI; Novogroder, M; Oberfield, SE; Wellner, D1
Burrow, CR; Fivush, BA; Hartz, PA; Racusen, LC; Wilson, PD1
Avner, ED; Benson, LL; Foreman, JW; Nissim, I; Sweeney, W; Wellons, M1
Jean, G; Mencia-Huerta, JM; Niaudet, P; Pintos-Morell, G; Salem, P1
Bernardini, I; Brushart, TA; Charnas, LR; Cwik, VA; Dalakas, M; Fraker, D; Gahl, WA; Gilliatt, RW; Ishak, K; Luciano, CA1
Butler, JD; Pentchev, PG; Vanier, MT1
Aoyagi, K; Nakano, H; Yamakura, Y1
Bernardini, I; Gahl, WA; Hyman, PE; Ingelfinger, J; Mohan, P; Tangerman, A1
Ohno, K; Yano, T1
Antignac, C; Broyer, M; Fuchshuber, A; Gribouval, O; Jean, G; Niaudet, P; Schneider, JA; Town, MM; van't Hoff, W1
Ballantyne, AO; Scarvie, KM; Trauner, DA1
Gretz, N; van't Hoff, WG1
Bianchetti, MG; Kernland, K; Lüthy, CM; Wermuth, B1
Barker, P; Chung, CJ; Fordham, LA; O'Connell, T; Specter, B1
Eto, Y1
Gahl, WA; Iwata, F; Kaiser-Kupfer, MI; Kuehl, EM; McCain, LM; Reed, GF1
Blom, H; de Graaf-Hess, A; Trijbels, F1
Busuttil, DP; Liu Yin, JA1
Blom, HJ; Heil, SG; Levtchenko, E; Monnens, LA; Trijbels, FJ; Van der Put, NM1
Antignac, C; Cherqui, S; Gasnier, B; Kalatzis, V1
Butler, JD; Pellefigue, F; Schulman, JD; Spielberg, SP; Tietze, F1
Pollard, AC; Roy, LP1
Kong, CM1
Scotto, JM; Stralin, HG1
Böhm, N; Gospos, C; Riede, UN; Ullrich, K1
Oshima, RG; Pellett, OL; Robb, JA; Schneider, JA1
Braum, R; Darai, G; Flügel, RM; Harms, E; Munk, K1
Kaye, CI; Nadler, HL2
Oshima, RG; Ritchie, DG; Schneider, JA; Thoene, JG1
Schneider, JA; Schulman, JD2
Ettenger, RB; Fine, RH; Kogut, MD; Malekzadeh, MH; Neustein, HB; Pennisi, AJ; Schneider, JA; Uittenbogaart, CH1
Bloustein, PA; Goodman, SI; Hambidge, KM; Schröter, GP; Weil, R; West, JC1
Godfrey, AD; Kroll, WA; Mendoza, SA; Orloff, S; Schlesselman, JJ; Schneider, JA; Schulman, JD; Thoene, JG1
Segal, S1
Butler, JD; Tietze, F1
Harms, E; Knöpfle, G; Weber, HP1
Dodd, MJ; Green, WR; Pusin, SM1
Allard, D; Castets, JC; Huang, Y; Kamoun, P; Parvy, P1
Libert, J; Toussaint, D; Verougstraete, C1
Crawhall, JC; Oshima, RG; Schneider, JA1
Delvin, E; Depape-Brigger, D; Goldman, H; Mamer, O; Scriver, CR1
Koldovsky, O; Palmieri, M; Scardigli, K; Segal, S; States, B1
Harris, D; Segal, S; States, B2
Oshima, RG; Rhead, WJ; Schneider, JA; Thoene, JG1
Crawhall, JC; Olson, DL; Oshima, RG; Schneider, JA; Thoene, JG1
Ebbesen, F; Holck, F; Mygind, KI1
Corbeel, L; Hauglustaine, D; Michielsen, P; Serrus, M; van Damme, B1
Rhead, WJ; Schneider, JA1
Schulman, JD2
Patrick, AD; Willcox, P2
Blazer, B; Harris, D; Segal, S; States, B1
Burnstine, RA; Nicely, A; Potter, JL1
Antoci, B; Gherlinzoni, G1
Aricheta, R; Baum, M; Sakarcan, A1
Kamoshita, S; Watanabe, H1
Aoki, T; Higashino, H; Nakajima, M; Okami, T1
Bernardini, I; Charnas, L; Dalakas, MC; Gahl, WA; Ishak, KG; Markello, TC1
Ayadi, A; Besbes, A; Hammami, M; Pousse, H; Sfar, MT; Slimane, MN1
Gräf, M; Grote, A; Wagner, F1
Lemons, RM; Paelicke, KM; Pisoni, RL; Thoene, JG1
Cole, BR; Cottel, J; Kissane, JM; Marcusson, E; Merrill, S; Nelson, RD; Schnaper, HW; Shackelford, GD; Smith, ML; So, SK1
Baker, T; Chantler, C; Dalton, RN; Duke, LC; Haycock, GB; Smith, SP; van't Hoff, WG1
Broyer, M; Ged, C; Jean, G; Kamoun, P; Tete, MJ1
Bradbury, JA; Brocklebank, T; Danjoux, JP; Spencer, M; Voller, J1
Baum, M; Coor, C; Marver, D; Quigley, R; Salmon, RF1
Andersson, H; Fivush, BA; Gahl, WA; Racusen, LC1
Almond, PS; Chavers, B; Matas, A; Morel, P; Najarian, JS; Troppmann, C1
Coulthard, M; Fleetwood, A; Richardson, J1
Berger, R; Bijsterveld, K; Chapman, TE; Reijngoud, DJ; Schierbeek, H; van Luijk, WH1
Cornford, ME; Malekzadeh, MH; Schneider, JA; Shields, WD; Vinters, HV; Vogel, DG1
Benson, L; Foreman, JW1
Baum, M; Salmon, RF1
Broyer, M; Tete, MJ1
Forster, S; Lloyd, JB; Scarlett, L3
Butler, JD1
Gloster, E; Goldstein, M; Rozenbaum, JA; Trachtman, H1
Katz, B; Melles, RB; Schneider, JA1
Hall, NA; Young, EP1
Broyer, M; Gubler, MC; Habib, R; Spear, GS2
Foreman, JW1
Adamson, MD; Andersson, HC; Gahl, WA1
Christensen, HN; Greene, AA; Pisoni, RL; Schneider, JA; Smith, ML1
Chen, YJ; Clark, KF; Davis, SE; Greene, AA; Marcusson, EG; Schneider, JA; Smith, ML1
Lemons, RM; Lisowski, KM; Pisoni, RL; Thoene, JG1
Forster, S; Lloyd, JB1
Butler, JD; Gahl, WA; Tietze, F1
Minckler, DS; Rao, NA; Wan, WL1
Adamson, M; Barranger, J; Cohen, W; Gahl, WA; Kaiser-Kupfer, I; Ludwig, IH; O'Connell, HJ1
Gahl, WA; Kaiser-Kupfer, MI; Kuwabara, T; O'Regan, S; Schneider, JA; Thoene, JG1
Charnas, L; Chen, KT; Chesney, RW; Dalakas, MC; Davis, SL; Fink, J; Gahl, WA; Hutchison, HT; Kuwabara, T; Pezeshkpour, GH1
Narisawa, K1
Gahl, WA; Kuwabara, T; Reiss, RE; Smith, ML1
Clark, KF; Gahl, WA; Schneider, JA; Smolin, LA; Thoene, JG1
Kohn, G; Makov, N; Rachmel, A; Steinherz, R1
Chesney, R; Gahl, WA; Schneider, JA; Thoene, JG1
Corden, BJ; Denman, DW; Gahl, WA; Jonas, AJ; Reed, GF; Rizzo, WB; Schlesselman, JJ; Schneider, JA; Schulman, JD; Thoene, JG1
Kearney, L; Mossman, J; Patrick, AD; Rodeck, CH; Warren, R; Young, EP1
Chan, CC; Datiles, MB; Gahl, WA; Kaiser-Kupfer, MI; Rodrigues, M1
Bernardini, I; Gahl, WA; Harper, GS; Hurko, O; Zuurveld, J1
Bowring, MA; Foreman, JW; Lee, J; Segal, S; States, B1
Katz, B; Melles, RB; Rao, NA; Schneider, JA1
Christensen, HN; Lemons, RM; Pisoni, RL; Thoene, JG1
Lloyd, JB1
Butler, JD; Gahl, WA; Harper, GS; Rome, LH; Tietze, F1
Gahl, WA; Tietze, F1
Danpure, CJ; Fyfe, DA; Jennings, PR1
Borysko, K; Boskovich, S; Lemons, R; Thoene, JG1
Akao, T; Fukase, M; Kobashi, K; Koeda, T; Koizumi, F; Matumoto, M; Wakaki, K1
Butler, JD; Gahl, WA; Schulman, JD; Tietze, F1
Butler, JD; Gahl, WA; Thoene, JG; Wittwer, CT; Zatz, M1
Blumberg, A; da Silva, VA; Lavanchy, P; Lüthy, CM; Oetliker, OH; Suter, H; Wyss, SR; Zurbrügg, RP1
Bump, EA; Greene, AA; Harms, E; Jonas, AJ; Miller, AL; Pellett, OL; Schneider, JA; Smith, ML1
Gasset, AR; Hood, CI; Zimmerman, TJ1
Aaron, K; Goldman, H; Pinsky, L; Scriver, CR1
Olson, WH; Schulman, JD; Seegmiller, JE; Wong, V1
Furlong, CE; Oshima, RG; Schneider, JA; Willis, RC1
Schulman, JD; Slusser, RJ; Spear, GS; Taylor, CG; Tousimis, AJ1
Genova, R1
Kroll, WA; Schneider, JA1
Becker, FL; Francke, U; Hammond, DS; Pellett, OL; Schneider, JA1
Kroll, W; Lichte, KH1
Spear, GS2
Kroll, W; Schneider, JA1
Fetterman, GH; Hickman, RO; Mahoney, CP; Marchioro, TL; Schneider, JA; Striker, GE1
Linneweh, F; Wenske, G1
Kroll, W; Lichte, KH; Lutz, P; Maurer, R1
Spear, G1
Bickel, H; Lutz, P; Schmidt, H1
Becker, FL; Garvin, AJ; Horger, EO; Jacobson, C; Kroll, WA; Pellett, OL; Schneider, JA; Spear, GS; Verroust, FM; Wong, VG1
Schmickel, RD; Waterson, JR; Winter, WP1
Bradley, K; Schneider, JA; Seegmiller, JE; Wong, V1
Bradley, KH; Schulman, JD2
Hickman, RO; Mahoney, CP; Manning, GB; Marchioro, TL; Striker, GE1
Cotlier, E1
Kraus, E; Lutz, P2
Bradley, KH; Schneider, JA; Schulman, JD; Seegmiller, JE3
Dyszy-Laube, B; Kamińska, D; Kanabus, I; Korniszewski, L; Trzebiński, A1
Coppieters, R; Evens, L; François, J; Hanssens, M2
Bradley, KH; Schulman, JD; Tietze, F1
Feist, D; Lutz, HP; Schmidt, H1
Aaron, K; Canlas, Z; Delvin, E; Goldman, H; Scriver, CR1
Meerbach, W; Rüdiger, D; Wöckel, W1
Christensen, MF; Henriksen, O; Nielsen, JA1
Bradley, KH; Schulman, JD; Seegmiller, JE1
Cullmann, B; Toussaint, W1
Mildeová, E1
Bradley, KH; Schulman, JD; Seegmiller, JE; Wong, VG1
Brubaker, R; Kuwabara, T; Olson, W; Schulman, J; Seegmiller, JE; Wong, VG1
Bradley, KH; Kuwabara, T; Schulman, JD; Seegmiller, JE; Wong, VG1
Schulman, JD; Seegmiller, JE; Wong, VG1
Brubaker, RF; Kuwabara, T; Schulman, JD; Seegmiller, JE; Wong, VG1
Bradley, KH; Fujimoto, WY; Schulman, JD; Seegmiller, JE1
Antener, I1
Furukawa, T; Linneweh, F1
Barthelmai, W1
Rausch-Schott, G; Wilk, F1
Bradley, KH; Schneider, JA; Seegmiller, JE2
Crawhall, JC; Lietman, PS; Schneider, JA; Seegmiller, JE1
Frazier, PD; Wong, VG1
Nolan, SP; Schneider, JA; Seegmiller, JE1
Lake, BD; Patrick, AD1
Schneider, JA; Seegmiller, JE; Wong, V1
Gjessing, LR; Seip, M; Vellan, EJ1
Genel, M; Holtzapple, PG; Hummeler, K; Segal, S; Yakovac, WC1
Casey, TP1
Antener, I; Bauer, B1

Reviews

32 review(s) available for cystine and Cystinosis

ArticleYear
Central Nervous System Complications in Cystinosis: The Role of Neuroimaging.
    Cells, 2022, 02-15, Volume: 11, Issue:4

    Topics: Adult; Central Nervous System Diseases; Child; Cysteamine; Cystine; Cystinosis; Diffusion Tensor Imaging; Gray Matter; Humans

2022
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives.
    Cells, 2022, 06-04, Volume: 11, Issue:11

    Topics: Biomarkers; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Quality of Life

2022
Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis.
    Klinische Monatsblatter fur Augenheilkunde, 2023, Volume: 240, Issue:3

    Topics: Cornea; Cystine; Cystinosis; Humans; Mutation

2023
Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.
    Klinische Monatsblatter fur Augenheilkunde, 2023, Volume: 240, Issue:3

    Topics: Cornea; Cystine; Cystinosis; Humans; Retina

2023
Nephropathic cystinosis: an update on genetic conditioning.
    Pediatric nephrology (Berlin, Germany), 2021, Volume: 36, Issue:6

    Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Mutation

2021
[Cystinosis : Diagnosis, cystine-depleting therapy, and transition].
    Der Internist, 2018, Volume: 59, Issue:8

    Topics: Adult; Child; Child, Preschool; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Humans; Kidney; Lysosomes; Male; Quality of Life

2018
Cystinosis: a review.
    Orphanet journal of rare diseases, 2016, Apr-22, Volume: 11

    Topics: Amino Acid Transport Systems, Neutral; Child; Cystine; Cystinosis; Humans

2016
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
    Nature reviews. Nephrology, 2017, Volume: 13, Issue:2

    Topics: Crystallization; Cystine; Cystinosis; Fanconi Syndrome; Forecasting; Humans; Oxidative Stress

2017
Current medical aspects of pantethine.
    Ideggyogyaszati szemle, 2009, Jul-30, Volume: 62, Issue:7-8

    Topics: Acetylcholine; Animals; Antioxidants; Atherosclerosis; Blood Platelets; Cataract; Central Nervous System; Coenzyme A; Cystine; Cystinosis; Dietary Carbohydrates; Fatty Acids; Humans; Hyperlipidemias; Hypolipidemic Agents; Lipid Peroxidation; Oxidation-Reduction; Pantetheine; Pantothenic Acid; Pyruvates

2009
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.
    American journal of physiology. Renal physiology, 2010, Volume: 299, Issue:5

    Topics: Animals; Biological Transport, Active; Cystine; Cystinosis; Humans; Kidney; Lysosomes; Proteinuria

2010
Cystinosis.
    The New England journal of medicine, 2002, Jul-11, Volume: 347, Issue:2

    Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Mutation

2002
Cystinosis: from gene to disease.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2002, Volume: 17, Issue:11

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Mutation

2002
[Cystinosis: from cystine crystals to the cystinosin].
    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2003, Volume: 23 Suppl 1

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Diagnosis, Differential; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Molecular Biology

2003
[From gene to disease: cystinosis].
    Nederlands tijdschrift voor geneeskunde, 2004, Mar-06, Volume: 148, Issue:10

    Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Gene Deletion; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Renal Insufficiency

2004
[Cystinosis--an orphan disease. Pathogenesis and current treatment].
    Przeglad lekarski, 2006, Volume: 63 Suppl 3

    Topics: Adolescent; Adult; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Humans; Infant; Infant, Newborn; Kidney Diseases; Rare Diseases; Renal Insufficiency

2006
A review of the role of enhanced apoptosis in the pathophysiology of cystinosis.
    Molecular genetics and metabolism, 2007, Volume: 92, Issue:4

    Topics: Apoptosis; Cells, Cultured; Cystine; Cystinosis; Epithelial Cells; Fibroblasts; Humans; Kidney Diseases; Kidney Tubules; Kidney Tubules, Proximal; Lysosomes; Protein Kinase C-delta

2007
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
    Nihon rinsho. Japanese journal of clinical medicine, 1995, Volume: 53, Issue:12

    Topics: Biological Transport; Cysteamine; Cystine; Cystinosis; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Sialic Acids

1995
[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    Topics: Cystine; Cystinosis; Humans; Lysosomal Storage Diseases; Sialic Acids

1998
[Cystinosis from childhood to adulthood].
    Nephrologie, 2000, Volume: 21, Issue:1

    Topics: Adult; Child; Chromosomes, Human, Pair 17; Cystine; Cystinosis; Humans; Lysosomes

2000
Cystinosis: a review.
    Metabolism: clinical and experimental, 1977, Volume: 26, Issue:7

    Topics: Biological Transport; Cells, Cultured; Child; Child, Preschool; Cysteine; Cystine; Cystinosis; Eye; Female; Heterozygote; Humans; Infant; Kidney; Kidney Diseases; Kidney Transplantation; Leukocytes; Oxidation-Reduction; Pregnancy; Prenatal Diagnosis; Transplantation, Homologous

1977
Cystinosis and the Fanconi syndrome.
    Pediatric clinics of North America, 1976, Volume: 23, Issue:4

    Topics: Adolescent; Child; Child, Preschool; Cystine; Cystinosis; Eye; Fanconi Syndrome; Fibroblasts; Humans; Infant; Kidney; Kidney Function Tests; Kidney Transplantation; Leukocytes; Prenatal Diagnosis; Transplantation, Homologous; Uremia

1976
Cystinosis--a review.
    Scottish medical journal, 1975, Volume: 20, Issue:1

    Topics: Animals; Birds; Cystine; Cystinosis; Dimercaprol; Homocystine; Humans; Hydrogen Sulfide; Kidney Transplantation; Lysosomes; Mammals; Methionine; Organoids; Penicillamine; S-Adenosylmethionine; Thiosulfates; Transplantation, Homologous

1975
Cystinosis.
    Seminars in nephrology, 1989, Volume: 9, Issue:1

    Topics: Cysteamine; Cystine; Cystinosis; Humans; Kidney

1989
Cystinosis.
    Seminars in nephrology, 1989, Volume: 9, Issue:2

    Topics: Adult; Child; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney

1989
Cystine exodus from lysosomes: cystinosis.
    Methods in enzymology, 1989, Volume: 174

    Topics: Adenosine Triphosphate; Amino Acids; Biological Transport; Cystine; Cystinosis; Cytoplasmic Granules; Esters; Fibroblasts; Humans; Lymphocytes; Lysosomes; Methods; Temperature

1989
NIH conference. Cystinosis: progress in a prototypic disease.
    Annals of internal medicine, 1988, Oct-01, Volume: 109, Issue:7

    Topics: Adolescent; Adult; Biological Transport; Child; Child, Preschool; Crystallization; Cystaphos; Cysteamine; Cystine; Cystinosis; Eye Diseases; Female; Growth; Humans; Kidney Transplantation; Male; Ophthalmic Solutions; Prodrugs; Quebec

1988
"Adolescent" cystinosis. A case presentation and review of the recent literature.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1974, Volume: 92, Issue:3

    Topics: Adolescent; Biopsy; Bone Marrow; Chromosomes; Conjunctiva; Cornea; Cystine; Cystinosis; Diet Therapy; Female; Genes, Recessive; Humans; Kidney; Kidney Transplantation; Liver; Lymph Nodes; Mononuclear Phagocyte System; Nephrectomy; Penicillamine; Retinal Hemorrhage; Sclera; Scotoma; Spleen; Staining and Labeling; Uvea

1974
Cystinosis: a review of the different forms and of recent advances.
    Humangenetik, 1973, Volume: 20, Issue:2

    Topics: Adult; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Cystine; Cystinosis; Diet Therapy; Dithiothreitol; Fanconi Syndrome; Fibroblasts; Heterozygote; Humans; Hybrid Cells; Infant; Kidney Transplantation; Lymphocytes; Pedigree; Prenatal Diagnosis; Syndrome; Transplantation, Homologous

1973
Pathology of the kidney in cystinosis.
    Pathology annual, 1974, Volume: 9, Issue:0

    Topics: Autopsy; Biopsy; Child; Child, Preschool; Cystine; Cystinosis; Cytoplasmic Granules; Dilatation; Epithelial Cells; Epithelium; Female; Humans; Kidney; Kidney Glomerulus; Kidney Tubules; Kidney Tubules, Proximal; Male; Mast Cells; Microscopy, Electron; Pregnancy

1974
Recent progress in our knowledge of cystinosis.
    Clinics in endocrinology and metabolism, 1974, Volume: 3, Issue:1

    Topics: Adolescent; Ascorbic Acid; Cystine; Cystinosis; Female; Fetus; Fibroblasts; Heterozygote; Homozygote; Humans; Hybridization, Genetic; Infant; Kidney; Leukocytes; Male; Pedigree; Pregnancy; Prenatal Diagnosis

1974
Renal transplantation in childhood cystinosis: effects of the metabolic disease and renal allografts on each other.
    Birth defects original article series, 1973, Volume: 9, Issue:2

    Topics: Cystine; Cystinosis; Humans; Infant; Kidney; Kidney Diseases; Kidney Transplantation; Kidney Tubules, Proximal; Leukocytes; Lysosomes; Transplantation, Homologous; Vacuoles

1973
The pathology of the kidney in cystinosis.
    Birth defects original article series, 1974, Volume: 10, Issue:4

    Topics: Child, Preschool; Cystine; Cystinosis; Epithelium; Female; Humans; Kidney; Kidney Tubules, Proximal

1974

Trials

9 trial(s) available for cystine and Cystinosis

ArticleYear
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study.
    Investigative ophthalmology & visual science, 2017, 04-01, Volume: 58, Issue:4

    Topics: Adolescent; Cornea; Corneal Diseases; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Dose-Response Relationship, Drug; Female; Follow-Up Studies; Humans; Male; Microscopy, Confocal; Ophthalmic Solutions; Retrospective Studies; Tomography, Optical Coherence; Treatment Outcome; Visual Acuity; Young Adult

2017
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.
    Orphanet journal of rare diseases, 2011, Dec-23, Volume: 6

    Topics: Adolescent; Adult; Body Weight; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Fanconi Syndrome; Female; Humans; Infant; Male; Nephrotic Syndrome; Radiation-Protective Agents; Treatment Outcome; Young Adult

2011
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.
    Clinical journal of the American Society of Nephrology : CJASN, 2012, Volume: 7, Issue:7

    Topics: Adolescent; Adult; Child; Cross-Over Studies; Cysteamine; Cystine; Cystinosis; Delayed-Action Preparations; Fanconi Syndrome; Female; Humans; Leukocytes; Male; Nephrotic Syndrome; Young Adult

2012
Ascorbic acid treatment in nephropathic cystinosis in identical twins.
    Developmental pharmacology and therapeutics, 1981, Volume: 2, Issue:2

    Topics: Amino Acids; Ascorbic Acid; Child; Cystine; Cystinosis; Diseases in Twins; Double-Blind Method; Growth; Humans; Leukocytes; Male; Thyrotropin

1981
Altered leukotriene generation in leukocytes from cystinotic children.
    Pediatric research, 1994, Volume: 36, Issue:5

    Topics: Adult; Calcimycin; Child; Child, Preschool; Cystine; Cystinosis; Eosinophils; Heterozygote; Humans; Leukotriene C4; Neutrophils; Stimulation, Chemical

1994
A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis.
    Molecular genetics and metabolism, 1998, Volume: 64, Issue:4

    Topics: Administration, Topical; Adolescent; Adult; Child; Child, Preschool; Cornea; Corneal Diseases; Cystamine; Cystine; Cystinosis; Female; Follow-Up Studies; Humans; Male; Sulfhydryl Compounds; Visual Acuity

1998
Ineffectiveness of ascorbic acid therapy in nephropathic cystinosis.
    The New England journal of medicine, 1979, Apr-05, Volume: 300, Issue:14

    Topics: Ascorbic Acid; Blood Urea Nitrogen; Child; Child, Preschool; Clinical Trials as Topic; Creatinine; Cystine; Cystinosis; Double-Blind Method; Drug Evaluation; Female; Hematocrit; Humans; Leukocytes; Male; Risk

1979
A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis.
    Eye (London, England), 1991, Volume: 5 ( Pt 6)

    Topics: Adolescent; Child; Contrast Sensitivity; Cornea; Cysteamine; Cystine; Cystinosis; Double-Blind Method; Female; Humans; Kidney Failure, Chronic; Male; Ophthalmic Solutions; Visual Acuity

1991
Cysteamine therapy for children with nephropathic cystinosis.
    The New England journal of medicine, 1987, Apr-16, Volume: 316, Issue:16

    Topics: Administration, Oral; Child; Child, Preschool; Clinical Trials as Topic; Cysteamine; Cystine; Cystinosis; Growth; Humans; Kidney Diseases; Kidney Glomerulus; Kidney Tubules

1987

Other Studies

392 other study(ies) available for cystine and Cystinosis

ArticleYear
Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.
    International journal of molecular sciences, 2021, Aug-30, Volume: 22, Issue:17

    Topics: Amino Acid Transport Systems, Neutral; Animals; Cystine; Cystinosis; Disease Models, Animal; Humans; Kidney; Mutation; Phenotype; Zebrafish; Zebrafish Proteins

2021
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis.
    Orphanet journal of rare diseases, 2021, 09-14, Volume: 16, Issue:1

    Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Quality of Life; Retrospective Studies

2021
Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
    The British journal of ophthalmology, 2023, Volume: 107, Issue:2

    Topics: Adolescent; Adult; Child; Cornea; Cross-Sectional Studies; Cysteamine; Cystine; Cystinosis; Female; Humans; Male; Tomography, Optical Coherence; Young Adult

2023
Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2

    Topics: Adult; Cross-Sectional Studies; Cysteamine; Cystine; Cystinosis; Humans; Neuromuscular Diseases

2022
Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype.
    Cells, 2022, 01-05, Volume: 11, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Animals; Autophagy; Bioengineering; Biomarkers; Cell Line; Cystine; Cystinosis; Epithelial Cells; Fluorescein-5-isothiocyanate; Humans; Inulin; Ketoglutaric Acids; Kidney Tubules, Proximal; Lysosomal-Associated Membrane Protein 1; Membranes, Artificial; Metabolomics; Phenotype; Principal Component Analysis; TOR Serine-Threonine Kinases

2022
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.
    Human molecular genetics, 2022, 07-07, Volume: 31, Issue:13

    Topics: Amino Acid Transport Systems, Neutral; Animals; Autophagy; Cystine; Cystinosis; Fanconi Syndrome; Lysosomes; Mice; Rats; Renal Insufficiency

2022
Development of a fibrin-mediated gene delivery system for the treatment of cystinosis via design of experiment.
    Scientific reports, 2022, 03-08, Volume: 12, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Fibrin; Gene Transfer Techniques; Genetic Therapy; Humans

2022
Crystalline structures of L-cysteine and L-cystine: a combined theoretical and experimental characterization.
    Amino acids, 2022, Volume: 54, Issue:8

    Topics: Cysteine; Cystine; Cystinosis; Cystinuria; Disulfides; Humans

2022
Cystinosis and two rare mutations in CTNS gene: two case reports.
    Journal of medical case reports, 2022, May-06, Volume: 16, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Child; Cystine; Cystinosis; DNA; Female; Humans; Iran; Mutation

2022
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
    Diagnostic pathology, 2022, May-06, Volume: 17, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Humans; Lipid Bilayers; Mutation; Tunisia

2022
Ocular treatment of cystinosis with eye drop containing cysteamine
    Orvosi hetilap, 2022, May-22, Volume: 163, Issue:21

    Topics: Cornea; Corneal Diseases; Cysteamine; Cystine; Cystinosis; Humans; Photophobia; Quality of Life; Visual Acuity

2022
Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.
    Orphanet journal of rare diseases, 2022, 06-16, Volume: 17, Issue:1

    Topics: Cell Culture Techniques; Cysteamine; Cysteine; Cystine; Cystinosis; Fibroblasts; Humans

2022
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
    Molecular genetics and metabolism, 2022, Volume: 136, Issue:4

    Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Infant; Infant, Newborn; Kidney

2022
Structural basis for proton coupled cystine transport by cystinosin.
    Nature communications, 2022, 08-17, Volume: 13, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Biological Transport; Cystine; Cystinosis; Humans; Lysosomes; Protons

2022
Nephropathic cystinosis in Poland: a 40-year retrospective study.
    Polish archives of internal medicine, 2022, 11-25, Volume: 132, Issue:11

    Topics: Adult; Child; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Poland; Retrospective Studies; Young Adult

2022
Dermal Cystine Crystals: An Incidental Finding During Mohs Surgery.
    The American Journal of dermatopathology, 2022, Oct-01, Volume: 44, Issue:10

    Topics: Cystine; Cystinosis; Female; Humans; Incidental Findings; Middle Aged; Mohs Surgery; Mutation

2022
Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.
    Human molecular genetics, 2023, 03-20, Volume: 32, Issue:7

    Topics: Animals; Cysteamine; Cystine; Cystinosis; Disease Models, Animal; Female; Genistein; Kidney; Kidney Diseases; Mice

2023
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis.
    Orphanet journal of rare diseases, 2022, 11-03, Volume: 17, Issue:1

    Topics: Cysteamine; Cystine; Cystinosis; Drug Monitoring; Humans

2022
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.
    International journal of molecular sciences, 2023, Jan-09, Volume: 24, Issue:2

    Topics: Adolescent; Adult; Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Humans; Leukocytes

2023
Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis.
    Cornea, 2023, Mar-01, Volume: 42, Issue:3

    Topics: Cornea; Corneal Topography; Cystine; Cystinosis; Densitometry; Humans; Treatment Outcome

2023
Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis.
    International journal of molecular sciences, 2023, Jan-30, Volume: 24, Issue:3

    Topics: Amino Acid Transport Systems, Neutral; Biomarkers; Creatinine; Cystine; Cystinosis; Glutathione; Humans

2023
Cystinosis.
    Klinische Monatsblatter fur Augenheilkunde, 2023, Volume: 240, Issue:3

    Topics: Cysteamine; Cystine; Cystinosis; Humans; Mutation

2023
The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study.
    Pediatric nephrology (Berlin, Germany), 2023, Volume: 38, Issue:11

    Topics: Adult; Child; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Retrospective Studies

2023
The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.
    The ocular surface, 2023, Volume: 29

    Topics: Animals; Clustered Regularly Interspaced Short Palindromic Repeats; Cornea; Cystine; Cystinosis; Gene Editing; Genetic Therapy; Humans; Infant; Mice

2023
Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization.
    Nature communications, 2023, 07-14, Volume: 14, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Epithelial Cells; Humans; Kidney; Lysosomes; Mechanistic Target of Rapamycin Complex 1

2023
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
    The Journal of clinical investigation, 2023, 10-02, Volume: 133, Issue:19

    Topics: Cystine; Cystinosis; Endoplasmic Reticulum-Associated Degradation; Humans; Lysosomes; Molecular Chaperones; Mutation; Precision Medicine

2023
Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content.
    Scientific reports, 2023, 10-12, Volume: 13, Issue:1

    Topics: Adult; Animals; Cystine; Cystinosis; Dietary Supplements; Humans; Kidney; Low Density Lipoprotein Receptor-Related Protein-2; Lysine; Mice

2023
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.
    Scientific reports, 2023, Nov-28, Volume: 13, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Animals; Cystine; Cystinosis; Dietary Supplements; Models, Theoretical; RNA, Messenger; Zebrafish

2023
Cystinosis: Status of research and treatment in India and the world.
    Journal of biosciences, 2023, Volume: 48

    Topics: Cysteamine; Cystine; Cystinosis; Humans; India; Mutation

2023
Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom.
    BMC nephrology, 2023, Nov-29, Volume: 24, Issue:1

    Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Patient Compliance; Renal Dialysis; Renal Insufficiency; United Kingdom

2023
Central nervous system complications in adult cystinosis patients.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2

    Topics: Adolescent; Adult; Aged; Case-Control Studies; Central Nervous System Diseases; Cerebrovascular Circulation; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Female; Gray Matter; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Young Adult

2020
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
    Journal of the American Society of Nephrology : JASN, 2019, Volume: 30, Issue:11

    Topics: Animals; Cystine; Cystinosis; Disease Progression; Endocytosis; Kidney Tubules, Proximal; Low Density Lipoprotein Receptor-Related Protein-2; Mice; Mice, Inbred C57BL; Signal Transduction; Wnt4 Protein

2019
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
    PloS one, 2019, Volume: 14, Issue:12

    Topics: Amino Acid Transport Systems, Neutral; Aminoglycosides; Animals; Biological Transport; Cystine; Cystinosis; Female; Lysosomes; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Mutation; Protein Biosynthesis

2019
LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors.
    Talanta, 2020, Mar-01, Volume: 209

    Topics: Chromatography, Liquid; Cystine; Cystinosis; Humans; Leukocytes; Limit of Detection; Tandem Mass Spectrometry

2020
Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.
    Journal of the American Society of Nephrology : JASN, 2020, Volume: 31, Issue:5

    Topics: Amino Acid Transport Systems, Neutral; Animals; Autophagy; Cell Line; CRISPR-Cas Systems; Cysteamine; Cystine; Cystinosis; Disease Models, Animal; Drug Evaluation, Preclinical; Drug Therapy, Combination; Everolimus; Gene Editing; Heterografts; Humans; Induced Pluripotent Stem Cells; Lysosomes; Mice; Mice, SCID; Organoids; Phenotype; TOR Serine-Threonine Kinases

2020
Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.
    Journal of the American Society of Nephrology : JASN, 2020, Volume: 31, Issue:5

    Topics: Adolescent; Adult; Biomarkers; Child; Cysteamine; Cystine; Cystinosis; Drug Monitoring; Female; Hexosaminidases; Humans; Inflammation; Interleukin-18; Interleukin-1beta; Interleukin-6; Leukocytes; Macrophage Activation; Male; Medication Adherence; Peptide Fragments; Prospective Studies; Young Adult

2020
Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.
    BMC gastroenterology, 2020, Jul-29, Volume: 20, Issue:1

    Topics: Child; Cysteamine; Cystine; Cystinosis; Humans; Infant; Kidney; Muscles

2020
MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
    Nature, 2020, Volume: 588, Issue:7839

    Topics: Biological Transport; Cell Fractionation; Cell Line; Cysteine; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes; Melanins; Melanosomes; Membrane Proteins; Oxidation-Reduction

2020
Non-invasive intradermal imaging of cystine crystals in cystinosis.
    PloS one, 2021, Volume: 16, Issue:3

    Topics: Adolescent; Adult; Child; Crystallization; Cystine; Cystinosis; Dermis; Female; Humans; Imaging, Three-Dimensional; Male; Microscopy, Confocal; Middle Aged; Young Adult

2021
Gold nanoparticle synthesis in contact lenses for drug-less ocular cystinosis treatment.
    European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V, 2021, Volume: 165

    Topics: Administration, Ophthalmic; Contact Lenses; Cystine; Cystinosis; Drug Delivery Systems; Drug Liberation; Eye Diseases; Gold; Humans; Metal Nanoparticles

2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
    Kidney international, 2021, Volume: 100, Issue:5

    Topics: Adult; Child, Preschool; Cohort Studies; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Humans

2021
Cystinosis distal myopathy, novel clinical, pathological and genetic features.
    Neuromuscular disorders : NMD, 2017, Volume: 27, Issue:9

    Topics: Amino Acid Transport Systems, Neutral; Cardiac Myosins; Cystine; Cystinosis; Distal Myopathies; Family Health; Female; Humans; Male; Microscopy, Electron; Middle Aged; Muscle, Skeletal; Mutation; Myosin Heavy Chains; Myosins; Young Adult

2017
Short-cut diagnostic tool in cystinosis: Bone marrow aspiration.
    Pediatrics international : official journal of the Japan Pediatric Society, 2017, Volume: 59, Issue:11

    Topics: Bone Marrow; Child; Child, Preschool; Cystine; Cystinosis; Female; Humans; Infant; Male; Retrospective Studies

2017
Potential role of stromal collagen in cystine crystallization in cystinosis patients.
    International journal of pharmaceutics, 2018, Nov-15, Volume: 551, Issue:1-2

    Topics: Animals; Collagen; Corneal Stroma; Crystallization; Cystine; Cystinosis; Humans; Rabbits

2018
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
    Pediatric nephrology (Berlin, Germany), 2019, Volume: 34, Issue:5

    Topics: Amino Acid Transport Systems, Neutral; Codon, Nonsense; Cystine; Cystinosis; Fibroblasts; Genetic Vectors; Gentamicins; HEK293 Cells; Humans; Peptide Chain Termination, Translational; Plasmids; Recombinant Proteins; RNA, Messenger; Transfection

2019
Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography.
    The Journal of investigative dermatology, 2019, Volume: 139, Issue:10

    Topics: Adolescent; Age Factors; Aging, Premature; Case-Control Studies; Child; Cystine; Cystinosis; Female; Genetic Predisposition to Disease; Humans; Kidney Transplantation; Linear Models; Male; Reference Values; Renal Insufficiency, Chronic; Skin Aging; Tomography, Optical Coherence; Young Adult

2019
Oh cystinosin: let me count the ways!
    Kidney international, 2019, Volume: 96, Issue:2

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Galectin 3; Humans; Inflammation; Kidney

2019
Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.
    Molecular and cellular biology, 2013, Volume: 33, Issue:15

    Topics: Amino Acid Transport Systems, Neutral; Animals; Biological Transport; Calcium; Cell Line; Cells, Cultured; Cystine; Cystinosis; Down-Regulation; Endoplasmic Reticulum Chaperone BiP; Endoplasmic Reticulum Stress; Exocytosis; Humans; Lysosomes; Mice; Mice, Inbred C57BL; rab GTP-Binding Proteins; rab27 GTP-Binding Proteins; Up-Regulation

2013
Significance of twinkling artifact on ultrasound in the diagnosis of cystine urolithiasis.
    Pediatrics international : official journal of the Japan Pediatric Society, 2013, Volume: 55, Issue:3

    Topics: Artifacts; Child, Preschool; Chromosome Aberrations; Cystine; Cystinosis; Diagnosis, Differential; Genes, Recessive; Humans; Male; Pedigree; Recurrence; Ultrasonography, Doppler, Color; Urinary Bladder Calculi; Urinary Tract Infections

2013
A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:3

    Topics: Administration, Topical; Adolescent; Adult; Child; Cornea; Crystallization; Cysteamine; Cystine; Cystinosis; Female; Gels; Humans; Male; Ophthalmic Solutions; Young Adult

2014
Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.
    Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:6

    Topics: Adaptation, Physiological; Amino Acid Transport Systems, Neutral; Animals; Apoptosis; Cell Proliferation; Crystallization; Cystine; Cystinosis; Disease Models, Animal; Disease Progression; Endocytosis; Fanconi Syndrome; Kidney Tubules, Proximal; Low Density Lipoprotein Receptor-Related Protein-2; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Proteinuria; Receptors, Cell Surface; Vacuoles

2014
Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.
    Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:6

    Topics: Adolescent; Adult; Amino Acid Transport Systems, Neutral; Animals; Cells, Cultured; Child; Child, Preschool; Crystallization; Cystine; Cystinosis; Humans; Inflammasomes; Interleukin-1beta; Leukocytes, Mononuclear; Mice; Mice, Inbred C57BL; Mice, Knockout; Renal Insufficiency, Chronic; Young Adult

2014
The proximal tubule in cystinosis: fight or flight?
    Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:6

    Topics: Adaptation, Physiological; Amino Acid Transport Systems, Neutral; Animals; Cystine; Cystinosis; Fanconi Syndrome; Humans; Inflammasomes; Kidney Tubules, Proximal; Leukocytes, Mononuclear; Renal Insufficiency, Chronic

2014
Long-term endocrinologic complications of cystinosis.
    Minerva pediatrica, 2014, Volume: 66, Issue:2

    Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Cystine; Cystinosis; Diabetes Mellitus; Dwarfism; Female; Follow-Up Studies; Glucose Intolerance; Hospitals, University; Humans; Hypothyroidism; Male; Puberty, Delayed; Retrospective Studies; Time Factors

2014
Common mutation causes cystinosis in the majority of black South African patients.
    Pediatric nephrology (Berlin, Germany), 2015, Volume: 30, Issue:4

    Topics: Adolescent; Amino Acid Transport Systems, Neutral; Black People; Child; Child, Preschool; Cystine; Cystinosis; Female; Humans; Infant; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Retrospective Studies; RNA, Messenger; South Africa

2015
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
    Orphanet journal of rare diseases, 2014, Nov-19, Volume: 9

    Topics: Adolescent; Adult; Animals; Biomarkers; Cells, Cultured; Child; Child, Preschool; Cystine; Cystinosis; Female; Genotype; Hexosaminidases; Humans; Infant; Macrophages; Male; Mice; Mice, Knockout; Middle Aged; Renal Insufficiency, Chronic; Tumor Necrosis Factor-alpha; Young Adult

2014
[In vivo confocal microscopy for the diagnosis of lysosomal storage diseases].
    Annales de dermatologie et de venereologie, 2014, Volume: 141, Issue:12

    Topics: Crystallization; Cystine; Cystinosis; Humans; Lysosomal Storage Diseases; Microscopy, Confocal; Skin; Spectrum Analysis, Raman

2014
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.
    Pediatric nephrology (Berlin, Germany), 2015, Volume: 30, Issue:6

    Topics: Administration, Oral; Adolescent; Adult; Age Factors; Biomarkers; Child; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Female; Humans; Kidney; Kidney Failure, Chronic; Kidney Function Tests; Leukocytes; Linear Models; Male; Maximum Tolerated Dose; Medication Adherence; Middle Aged; Retrospective Studies; Risk Factors; Time Factors; Treatment Outcome; Young Adult

2015
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
    EMBO molecular medicine, 2015, Volume: 7, Issue:2

    Topics: Amino Acid Transport Systems, Neutral; Animals; Autophagy; Cystine; Cystinosis; Humans; Lysosomal-Associated Membrane Protein 2; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Molecular Chaperones

2015
Pancytopenia in a patient with cystinosis secondary to myelosuppression from cystine crystal deposition: a case report.
    Journal of medical case reports, 2015, Sep-17, Volume: 9

    Topics: Adult; Bone Marrow; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Female; Flow Cytometry; Humans; Pancytopenia

2015
Facial Papules in a Patient With Long-Term Cystinosis.
    JAMA dermatology, 2016, Volume: 152, Issue:1

    Topics: Adult; Biopsy; Cystine; Cystinosis; Face; Humans; Male; Skin Diseases; Time Factors

2016
IMAGES IN CLINICAL MEDICINE. Cystine Crystals in Bone Marrow.
    The New England journal of medicine, 2015, Dec-03, Volume: 373, Issue:23

    Topics: Bone Marrow; Crystallization; Cystine; Cystinosis; Fatal Outcome; Female; Humans; Infant

2015
Cystine crystals in bone marrow aspirate.
    Blood, 2015, Sep-17, Volume: 126, Issue:12

    Topics: Adult; Bone Marrow; Crystallization; Cystine; Cystinosis; Humans; Male

2015
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
    Endocrinology, 2016, Volume: 157, Issue:4

    Topics: Amino Acid Transport Systems, Neutral; Animals; Cell Differentiation; Cystine; Cystinosis; Disease Models, Animal; Female; Hematopoietic Stem Cell Transplantation; Hematopoietic Stem Cells; Humans; Luminescent Proteins; Lysosomes; Macrophages; Male; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Microscopy, Confocal; Thyroid Gland; Thyrotropin; Transplantation, Homologous

2016
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.
    Clinical chemistry, 2016, Volume: 62, Issue:5

    Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Liquid; Cystine; Cystinosis; Female; Granulocytes; Humans; Immunomagnetic Separation; Male; Middle Aged; Tandem Mass Spectrometry; Young Adult

2016
Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.
    Kidney international, 2016, Volume: 89, Issue:4

    Topics: Amino Acid Transport Systems, Neutral; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Cell Line; Cell Nucleus; Cystine; Cystinosis; Humans; Lysosomes

2016
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
    Kidney international, 2016, Volume: 89, Issue:6

    Topics: Adolescent; Adult; Age Factors; Amino Acid Transport Systems, Neutral; Child; Congresses as Topic; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Genetic Testing; Genetic Therapy; Graft vs Host Disease; Hematopoietic Stem Cell Transplantation; Humans; Immunosuppression Therapy; Infant; Kidney Failure, Chronic; Kidney Transplantation; Lysosomes; Mutation; Rare Diseases; Renal Dialysis

2016
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study.
    Pediatric nephrology (Berlin, Germany), 2017, Volume: 32, Issue:1

    Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Cysteamine; Cystine; Cystinosis; Delayed-Action Preparations; Drug Compounding; Female; Glomerular Filtration Rate; Humans; Infant; Leukocytes; Male; Renal Agents; Retrospective Studies; Treatment Outcome

2017
Synergistic Cysteamine Delivery Nanowafer as an Efficacious Treatment Modality for Corneal Cystinosis.
    Molecular pharmaceutics, 2016, 10-03, Volume: 13, Issue:10

    Topics: Animals; Cornea; Cysteamine; Cystine; Cystinosis; Drug Delivery Systems; Female; Mass Spectrometry; Mice; Mice, Inbred C57BL; Ophthalmic Solutions; Treatment Outcome

2016
Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells.
    Pediatric research, 2017, Volume: 81, Issue:1-1

    Topics: Alternative Splicing; Amino Acid Transport Systems, Neutral; Animals; Apoptosis; Cells, Cultured; Cystine; Cystinosis; Dogs; Epithelial Cells; Humans; Kidney Tubules, Proximal; Lysosomes; Madin Darby Canine Kidney Cells; Microscopy, Electron, Transmission; Mutation; Protein Isoforms; Recombinant Fusion Proteins; Tumor Necrosis Factor-alpha

2017
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.
    Scientific reports, 2017, 02-15, Volume: 7

    Topics: Amino Acid Sequence; Amino Acid Transport Systems, Neutral; Animals; Apoptosis; Cystine; Cystinosis; Disease Models, Animal; Gene Knockout Techniques; Glomerular Filtration Rate; Humans; Kidney Glomerulus; Kidney Tubules, Proximal; Locomotion; Lysosomes; Mutation; Phenotype; Podocytes; Zebrafish

2017
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome.
    JAMA ophthalmology, 2017, 03-09, Volume: 135, Issue:3

    Topics: Adolescent; Corneal Diseases; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Nephrotic Syndrome; Retinal Diseases; Slit Lamp; Tomography, Optical Coherence; Vision Disorders; Visual Acuity

2017
Gene transfer may be preventive but not curative for a lysosomal transport disorder.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2008, Volume: 16, Issue:8

    Topics: Adenoviruses, Canine; Age Factors; Amino Acid Transport Systems, Neutral; Animals; Blotting, Western; Cell Line; Cells, Cultured; Cystine; Cystinosis; Dogs; Feasibility Studies; Fibroblasts; Fluorescent Antibody Technique; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Hepatocytes; Humans; Kupffer Cells; Lysosomes; Male; Mice; Mice, Knockout; Microscopy, Electron, Transmission

2008
Cystinosis, Fanconi syndrome, and odontogenic cysts.
    Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics, 2008, Volume: 106, Issue:6

    Topics: Adult; Cystine; Cystinosis; Dentigerous Cyst; Fanconi Syndrome; Humans; Male; Mandibular Diseases; Renal Insufficiency

2008
Clinicopathological features of ocular cystinosis.
    Clinical & experimental ophthalmology, 2008, Volume: 36, Issue:8

    Topics: Adult; Conjunctiva; Corneal Diseases; Corneal Stroma; Cystine; Cystinosis; Diagnosis, Differential; Female; Humans; Microscopy, Confocal; Microscopy, Electron, Transmission; Photophobia; Tomography, Optical Coherence

2008
Fertility status in male cystinosis patients treated with cysteamine.
    Fertility and sterility, 2010, Volume: 93, Issue:6

    Topics: Adult; Azoospermia; Cysteamine; Cystine; Cystinosis; Female; Fertility; Follicle Stimulating Hormone; Glomerular Filtration Rate; Humans; Luteinizing Hormone; Male; Organ Size; Pregnancy; Semen Analysis; Testis; Testosterone; Young Adult

2010
Cystinosis of the brain and spinal cord with associated vasculopathy.
    Journal of the neurological sciences, 2009, Sep-15, Volume: 284, Issue:1-2

    Topics: Adult; Anti-Inflammatory Agents; Biopsy, Needle; Central Nervous System; Crystallization; Cysteamine; Cystine; Cystinosis; Gait Disorders, Neurologic; Humans; Immunosuppressive Agents; Kidney Transplantation; Magnetic Resonance Imaging; Male; Myelitis; Postoperative Complications; Reoperation; Sensation Disorders; Spinal Cord Compression; Vasculitis, Central Nervous System

2009
Time before isolating cystinotic leukocytes affects reliability of cystine determination.
    Pediatric nephrology (Berlin, Germany), 2009, Volume: 24, Issue:12

    Topics: Cystine; Cystinosis; Humans; Leukocytes; Specimen Handling; Temperature; Time Factors

2009
In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis.
    Ophthalmology, 2009, Volume: 116, Issue:5

    Topics: Adolescent; Adult; Child; Cornea; Corneal Diseases; Crystallization; Cystine; Cystinosis; Diagnostic Techniques, Ophthalmological; Female; Humans; Intraocular Pressure; Male; Microscopy, Confocal; Nephrotic Syndrome; Prospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult

2009
Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage.
    Cortex; a journal devoted to the study of the nervous system and behavior, 2010, Volume: 46, Issue:2

    Topics: Anisotropy; Child; Child Development; Child, Preschool; Cognition; Cystine; Cystinosis; Diffusion Tensor Imaging; Female; Humans; Leukocytes; Male; Nerve Fibers, Myelinated; Neural Pathways; Neuropsychological Tests; Parietal Lobe; Space Perception; Temporal Lobe; Visual Perception

2010
Cysteamine prevents inhibition of adenylate kinase caused by cystine in rat brain cortex.
    Metabolic brain disease, 2009, Volume: 24, Issue:4

    Topics: Adenylyl Cyclases; Animals; Brain Chemistry; Brain Diseases, Metabolic; Cerebral Cortex; Creatine Kinase; Cysteamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Drug Interactions; Energy Metabolism; Homeostasis; Lysosomes; Rats; Rats, Wistar

2009
Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy.
    Cornea, 2009, Volume: 28, Issue:8

    Topics: Corneal Diseases; Crystallization; Crystallography; Cysteamine; Cystine; Cystinosis; Drug Administration Schedule; Female; Humans; Kidney Diseases; Kidney Transplantation; Medical Records; Microscopy, Confocal; Ophthalmic Solutions; Photophobia; Treatment Outcome; Visual Acuity; Young Adult

2009
Renal phenotype of the cystinosis mouse model is dependent upon genetic background.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2010, Volume: 25, Issue:4

    Topics: Amino Acid Transport Systems, Neutral; Animals; Cystine; Cystinosis; Disease Models, Animal; Female; Kidney Failure, Chronic; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Phenotype; Species Specificity

2010
Quiz page. Fanconi syndrome caused by cystinosis, intermediate type.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 2009, Volume: 54, Issue:6

    Topics: Adult; Cysteamine; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Humans; Male; Nephritis, Interstitial; Radiation-Protective Agents; Sjogren's Syndrome

2009
Long-term treatment of cystinosis in children with twice-daily cysteamine.
    The Journal of pediatrics, 2010, Volume: 156, Issue:5

    Topics: Adolescent; Child; Creatinine; Cysteamine; Cystine; Cystinosis; Drug Administration Schedule; Female; Humans; Leukocytes; Male; Tablets, Enteric-Coated

2010
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.
    Molecular genetics and metabolism, 2010, Volume: 101, Issue:4

    Topics: Adolescent; Adult; Apoptosis; Biopsy; Child; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Kidney Failure, Chronic; Kidney Glomerulus; Kidney Tubules; Male; Nephrons; Nephrotic Syndrome; Young Adult

2010
[Fabry disease and cystinosis, two lysosomal diseases: similarities and differences].
    La Revue de medecine interne, 2010, Volume: 31 Suppl 2

    Topics: alpha-Galactosidase; Biomarkers; Cystine; Cystinosis; Diagnosis, Differential; Disease Progression; Fabry Disease; Humans; Kidney; Kidney Diseases; Lysosomes

2010
Cystinosis presenting with findings of Bartter syndrome.
    Journal of clinical research in pediatric endocrinology, 2011, Volume: 3, Issue:2

    Topics: Acidosis; Bartter Syndrome; Child, Preschool; Cornea; Crystallization; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Humans; Male; Nephrotic Syndrome

2011
Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.
    Molecular vision, 2011, Volume: 17

    Topics: Age Factors; Amino Acid Transport Systems, Neutral; Animals; Cicatrix; Cornea; Crystallization; Cystine; Cystinosis; Disease Models, Animal; Endothelial Cells; Female; Keratinocytes; Leukocyte Common Antigens; Mice; Mice, Inbred C57BL; Mice, Knockout; Microscopy, Confocal; Neovascularization, Pathologic; Phalloidine

2011
In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis.
    Journal of the American Academy of Dermatology, 2013, Volume: 68, Issue:4

    Topics: Adolescent; Child; Child, Preschool; Cystine; Cystinosis; Female; Humans; Male; Microscopy, Confocal; Young Adult

2013
Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.
    Molecular vision, 2011, Volume: 17

    Topics: Administration, Ophthalmic; Amino Acid Transport Systems, Neutral; Animals; Cornea; Crystallization; Cysteamine; Cystine; Cystinosis; Disease Models, Animal; Humans; Mice; Mice, Knockout; Microscopy, Confocal; Ophthalmic Solutions; Treatment Outcome; Visual Acuity

2011
A potential new method to estimate tissue cystine content in nephropathic cystinosis.
    The Journal of pediatrics, 2012, Volume: 161, Issue:3

    Topics: Adolescent; Child; Child, Preschool; Crystallization; Cystine; Cystinosis; Endoscopy, Gastrointestinal; Fanconi Syndrome; Female; Glomerular Filtration Rate; Histiocytes; Humans; Immunohistochemistry; Intestinal Mucosa; Male; Nephrotic Syndrome; Sigmoidoscopy

2012
Suppository formulations as a potential treatment for nephropathic cystinosis.
    Journal of pharmaceutical sciences, 2012, Volume: 101, Issue:10

    Topics: Chemistry, Pharmaceutical; Cysteamine; Cystine; Cystinosis; Drug Stability; Excipients; Fanconi Syndrome; Nephrotic Syndrome; Polyethylene Glycols; Solubility; Suppositories

2012
Diagnosis of cystinosis from a bone marrow aspirate.
    American journal of hematology, 2013, Volume: 88, Issue:2

    Topics: Bone Marrow; Child, Preschool; Crystallization; Cystine; Cystinosis; Delayed Diagnosis; Humans; Kidney Calculi; Male; Pancytopenia

2013
Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.
    PloS one, 2012, Volume: 7, Issue:8

    Topics: Amino Acid Transport Systems, Neutral; Animals; Cystine; Cystinosis; Exosomes; Fibroblasts; Humans; Lysosomes; Mesenchymal Stem Cell Transplantation; Mesenchymal Stem Cells; Mice; Mutation; Protein Transport; RNA, Messenger

2012
Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry.
    Clinical biochemistry, 2013, Volume: 46, Issue:3

    Topics: Case-Control Studies; Child, Preschool; Chromatography, High Pressure Liquid; Cysteamine; Cystine; Cystinosis; Granulocytes; Humans; Infant; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry; Time Factors

2013
Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2013, Volume: 21, Issue:2

    Topics: Amino Acid Transport Systems, Neutral; Animals; Blotting, Western; Cystine; Cystinosis; Disease Models, Animal; Female; Fluorescent Antibody Technique; Genetic Therapy; Genetic Vectors; Green Fluorescent Proteins; Hematopoietic Stem Cells; Kidney Failure, Chronic; Lentivirus; Luminescent Proteins; Lysosomes; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Recombinant Proteins; Transduction, Genetic; Transgenes

2013
Crystalline histiocytosis in hereditary cysinosis.
    Archives of pathology & laboratory medicine, 2002, Volume: 126, Issue:9

    Topics: Adult; Bone Marrow Cells; Crystallization; Cystine; Cystinosis; Histiocytosis; Humans; Immunocompromised Host; Immunosuppressive Agents; Kidney Transplantation; Male

2002
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
    Molecular and cellular biology, 2002, Volume: 22, Issue:21

    Topics: Alleles; Amino Acid Transport Systems, Neutral; Animals; Bone and Bones; Cystine; Cystinosis; Cytosine; Dogs; Electroretinography; Glycoproteins; Lysosomes; Membrane Proteins; Membrane Transport Proteins; Mice; Mice, Inbred C57BL; Mice, Knockout; Models, Genetic; Promoter Regions, Genetic; Radiography; Recombinant Proteins; Retina; Reverse Transcriptase Polymerase Chain Reaction; Time Factors; Tissue Distribution

2002
Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up.
    BMC nephrology, 2002, Nov-09, Volume: 3

    Topics: Aneurysm, False; Cardiomyopathies; Child; Cystine; Cystinosis; Fatal Outcome; Follow-Up Studies; Humans; Kidney; Kidney Diseases; Kidney Failure, Chronic; Kidney Transplantation; Male; Myocardium; Pericarditis; Renal Artery Obstruction; Rupture, Spontaneous

2002
Ocular cystinosis.
    American journal of ophthalmology, 1952, Volume: 35, Issue:9

    Topics: Cystine; Cystinosis; Eye; Eye Diseases; Head; Humans

1952
A clinico-pathological study of cystinosis in two siblings.
    Archives of disease in childhood, 1952, Volume: 27, Issue:135

    Topics: Cystine; Cystinosis; Humans; Siblings

1952
[Cystinuria, cystinic lithiasis, cystinosis; two recent observations].
    Archives francaises de pediatrie, 1952, Volume: 9, Issue:7

    Topics: Cystine; Cystinosis; Cystinuria; Humans; Lithiasis

1952
Observations on therapy of cystine calculus disease.
    A.M.A. archives of internal medicine, 1952, Volume: 90, Issue:6

    Topics: Calculi; Cystine; Cystinosis; Cystinuria; Humans; Nephrolithiasis

1952
Cystinosis with crystal deposits in the cornea and conjunctiva; report of a case.
    American journal of ophthalmology, 1952, Volume: 35, Issue:11

    Topics: Conjunctiva; Conjunctival Diseases; Cornea; Corneal Diseases; Cystine; Cystinosis; Disease; Humans

1952
[Paper chromatographic investigations of urine and plasma in cystinosis (child M.L)].
    Zeitschrift fur Kinderheilkunde, 1952, Oct-22, Volume: 72, Issue:1

    Topics: Body Fluids; Child; Cystine; Cystinosis; Humans; Plasma

1952
Infantile cystinosis with cystine crystals in cornea and conjunctiva.
    Acta ophthalmologica, 1952, Volume: 30, Issue:4

    Topics: Conjunctiva; Cornea; Cystine; Cystinosis; Eye; Humans; Metabolic Diseases

1952
Cystinosis; report of two cases with postmortem examination.
    A.M.A. American journal of diseases of children, 1953, Volume: 85, Issue:5

    Topics: Autopsy; Cystine; Cystinosis; Humans

1953
[Roentgenographic studies in cystine storage disease].
    Klinische Wochenschrift, 1953, Mar-15, Volume: 31, Issue:11-12

    Topics: Cystine; Cystinosis; Humans; Research

1953
[Cystinosis].
    Revue medicale de Liege, 1953, Mar-15, Volume: 8, Issue:6

    Topics: Cystine; Cystinosis; Humans

1953
[Problem of kidney function disorders in cystinosis].
    Helvetica paediatrica acta, 1953, Volume: 8, Issue:4

    Topics: Cystine; Cystinosis; Humans; Kidney

1953
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease.
    Acta paediatrica, 1953, Volume: 42, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Cystinosis; Dwarfism; Fanconi Syndrome; Metabolic Diseases; Urine

1953
[On cystinosis].
    Medizinische Klinik, 1954, Jan-29, Volume: 49, Issue:5

    Topics: Cystine; Cystinosis; Humans

1954
[Additional observations on the problem of cystinosis].
    Annales paediatrici. International review of pediatrics, 1954, Volume: 182, Issue:2

    Topics: Cystine; Cystinosis; Humans

1954
[Cystinosis with aminoaciduria and nanism].
    Minerva pediatrica, 1954, Jan-15, Volume: 6, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Fluids; Cystine; Cystinosis; Dwarfism; Metabolic Diseases

1954
[Cystinosis - considerations].
    La Presse medicale, 1954, Apr-28, Volume: 62, Issue:31

    Topics: Cystine; Cystinosis; Humans

1954
[Cystinosis].
    Nederlands tijdschrift voor geneeskunde, 1954, Jun-19, Volume: 98, Issue:25

    Topics: Cystine; Cystinosis; Disease; Humans; Mononuclear Phagocyte System

1954
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria.
    The Medical journal of Australia, 1954, Nov-20, Volume: 2, Issue:21

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ataxia; Calculi; Cystine; Cystinosis; Muscle Spasticity; Psychomotor Disorders; Urinary Tract; Urine

1954
Cystinosis.
    Proceedings of the Royal Society of Medicine, 1954, Volume: 47, Issue:10

    Topics: Cystine; Cystinosis

1954
[Two cases of cystinosis with gluco-phosphate-amino renal diabetes].
    Archives francaises de pediatrie, 1954, Volume: 11, Issue:7

    Topics: Cystine; Cystinosis; Diabetes Mellitus; Glycosuria; Glycosuria, Renal; Humans; Hypophosphatemia, Familial; Kidney; Phosphates

1954
[Cystinosis with de Toni-Debré-Fanconi syndrome; clinical and biological study].
    Archives francaises de pediatrie, 1954, Volume: 11, Issue:8

    Topics: Cystine; Cystinosis; Fanconi Syndrome; Humans; Metabolic Diseases

1954
[Contribution to the knowledge of cystinosis].
    Acta paediatrica. Supplementum, 1954, Volume: 43, Issue:100

    Topics: Cystine; Cystinosis; Humans

1954
[Diagnostic significance of slit lamp studies of the cornea and conjunctiva in infantile cystinosis].
    Bibliotheca paediatrica, 1954, Volume: 58

    Topics: Amino Acids; Body Fluids; Chronic Kidney Disease-Mineral and Bone Disorder; Conjunctiva; Cornea; Cystine; Cystinosis; Humans; Kidney; Rickets; Slit Lamp; Urine

1954
Further observations on cystine storage disease.
    Pediatrics, 1955, Volume: 16, Issue:2

    Topics: Child; Cystine; Cystinosis; Dwarfism; Humans; Infant; Metabolic Diseases

1955
[A case of acute cystinosis].
    Acta paediatrica Belgica, 1955, Volume: 9, Issue:1

    Topics: Cystine; Cystinosis; Metabolic Diseases

1955
Ocular manifestations of systemic cystinosis.
    A.M.A. archives of ophthalmology, 1956, Volume: 55, Issue:1

    Topics: Conjunctiva; Cornea; Cystine; Cystinosis; Dwarfism; Eye; Humans; Metabolic Diseases

1956
[The importance of ocular findings in the diagnosis of cystinosis].
    Ceskoslovenska oftalmologie, 1955, Volume: 11, Issue:4-5

    Topics: Cystine; Cystinosis; Humans

1955
[Cystinosis without aminoaciduria in a girl nine years of age].
    Maandschrift voor kindergeneeskunde, 1955, Volume: 23, Issue:12

    Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Female; Humans; Urologic Diseases

1955
[A new case of cystinosis (Lignac's disease)].
    Acta paediatrica Belgica, 1955, Volume: 9, Issue:5

    Topics: Cystine; Cystinosis; Dwarfism; Metabolic Diseases

1955
[Cystinuria, cystinosis and De Toni-Debré-Fanconi disease].
    Minerva pediatrica, 1956, Apr-14, Volume: 8, Issue:15

    Topics: Cystine; Cystinosis; Cystinuria; Diagnosis, Differential; Dwarfism; Humans; Metabolic Diseases

1956
[Development of a case of cystinosis].
    Minerva pediatrica, 1956, Apr-14, Volume: 8, Issue:15

    Topics: Cystine; Cystinosis; Humans

1956
[Cystinuria, cystinosis, and De Toni-Debré-Fanconi disease].
    Pediatrie, 1956, Volume: 11, Issue:2

    Topics: Cystine; Cystinosis; Cystinuria; Dwarfism; Fanconi Syndrome; Metabolic Diseases

1956
[Course of a case of cystinosis].
    Pediatrie, 1956, Volume: 11, Issue:2

    Topics: Cystine; Cystinosis; Humans; Skin Diseases

1956
[Pre-renal stage of cystinosis].
    Archives francaises de pediatrie, 1956, Volume: 13, Issue:4

    Topics: Cystine; Cystinosis; Dwarfism; Humans; Kidney

1956
[Cystinosis in infancy; clinical observations].
    Die Medizinische, 1956, Nov-24, Volume: 1, Issue:47

    Topics: Cystine; Cystinosis; Dwarfism; Metabolic Diseases

1956
Amino-aciduria with cystinosis: case report with determination of urinary amino acids and ocular cystine.
    Annals of internal medicine, 1957, Volume: 46, Issue:1

    Topics: Amino Acids; Cystine; Cystinosis; Eye; Humans

1957
Cystinosis in an adult.
    Journal of the American Medical Association, 1957, May-25, Volume: 164, Issue:4

    Topics: Adult; Cystine; Cystinosis; Humans; Medical Records; Metabolic Diseases

1957
Amino-aciduria in childhood: cystinuria or cystinosis?; a case report.
    Journal of the South Carolina Medical Association, 1957, Volume: 53, Issue:6

    Topics: Amino Acids; Child; Cystine; Cystinosis; Cystinuria; Dwarfism; Humans; Infant; Medical Records; Metabolic Diseases

1957
Clinical conference; cystinosis.
    Pediatrics, 1957, Volume: 19, Issue:5

    Topics: Cystine; Cystinosis; Dwarfism; Medical Records; Metabolic Diseases

1957
The management of cystinuria and cystine-stone disease.
    Transactions. American Urological Association. Western Section, 1958, Volume: 25

    Topics: Calculi; Cystine; Cystinosis; Cystinuria; Disease Management; Humans; Urinary Calculi; Urinary Tract

1958
[Gluco-amino-phosphate-diabetes (De Toni-Debre-Fanconi syndrome) and disorder of cystine metabolism].
    Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften, 1962, Volume: 17

    Topics: Cystine; Cystinosis; Diabetes Mellitus; Fanconi Syndrome; Humans; Hypophosphatemia, Familial; Metabolic Diseases; Phosphates

1962
[THE TOXICITY OF SULPHUR-CONTAINING AMINO-ACIDS AND OF SOME OF THEIR METABOLITES. A CONTRIBUTION TO THE PATHOGENESIS OF CYSTINOSIS].
    Annales paediatrici. International review of pediatrics, 1964, Volume: 202

    Topics: Alkaline Phosphatase; Amino Acids; Animals; Cysteine; Cystine; Cystinosis; Histocytochemistry; Intestines; Kidney; Lagomorpha; Methionine; Rabbits; Research; Sulfonic Acids; Sulfur; Tissue Extracts; Toxicology

1964
[CONTRIBUTION TO THE STUDY OF CYSTINOSIS. OBSERVATIONS ON THE DETERMINATION OF CYSTIN IN THE SERUM AND THERAPEUTIC RESULTS WITH PENICILLAMINE AND ANABOLIC STEROIDS].
    Annales paediatrici. International review of pediatrics, 1964, Volume: 202

    Topics: Amino Acids; Anabolic Agents; Blood; Cystine; Cystinosis; Drug Therapy; Humans; Infant; Penicillamine; Steroids; Testosterone Congeners; Urine; Vitamin D; Vitamins

1964
[ON SOME FINDINGS CONCERNING PATHOLOGICAL AMINOACIDURIAS WITH CYSTINE CALCULOSIS].
    Giornale di gerontologia, 1964, Volume: 12

    Topics: Amino Acid Metabolism, Inborn Errors; Congenital Abnormalities; Cystine; Cystinosis; Cystinuria; Humans; Kidney; Kidney Calculi; Kidney Diseases; Kidney Tubules; Lithiasis; Renal Aminoacidurias

1964
[THE POSSIBILITY OF A DIETARY INFLUENCE ON CYSTINOSIS].
    Klinische Wochenschrift, 1964, Jul-15, Volume: 42

    Topics: Caseins; Cysteine; Cystine; Cystinosis; Diet; Diet Therapy; Dietary Proteins; Humans; Methionine

1964
IDENTIFICATION OF L-CYSTINE CRYSTALS IN BONE MARROW BY X-RAY DIFFRACTION.
    The Journal of laboratory and clinical medicine, 1965, Volume: 65

    Topics: Bone Marrow; Bone Marrow Examination; Crystallography; Cystine; Cystinosis; Humans; Pathology; X-Ray Diffraction

1965
OPTICAL CHARACTERIZATION OF CRYSTALS IN TISSUE: CYSTINE AND CALCIUM OXALATE MONOHYDRATE.
    American journal of clinical pathology, 1965, Volume: 43

    Topics: Calcium; Calcium Oxalate; Crystallography; Cystine; Cystinosis; Metabolic Diseases; Microscopy; Microscopy, Polarization; Oxalates; Pathology; X-Ray Diffraction

1965
DEFICIENCIES OF -SH-DEPENDENT ENZYMES IN CYSTINOSIS.
    Clinical science, 1965, Volume: 28

    Topics: Alcohol Oxidoreductases; Alkaline Phosphatase; Child; Coenzyme A; Cysteine; Cystine; Cystinosis; Dimercaprol; Electron Transport Complex II; Enzymes; Glucose-6-Phosphatase; Glycerolphosphate Dehydrogenase; Hexokinase; Hydro-Lyases; Kidney; Leucyl Aminopeptidase; Liver; Muscles; Penicillamine; Pharmacology; Phosphogluconate Dehydrogenase; Succinate Dehydrogenase; Sulfhydryl Compounds; Tissue Extracts; Transaminases

1965
[ON CYSTINE METABOLISM IN CYSTINOSIS].
    Klinische Wochenschrift, 1964, Oct-15, Volume: 42

    Topics: Amino Acids; Cystine; Cystinosis

1964
[Ophthalmological contributions to the diagnosis of dwarfism: cystinosis of the cornea].
    Bulletin des societes d'ophtalmologie de France, 1954, Volume: 6

    Topics: Cornea; Corneal Diseases; Cystine; Cystinosis; Disease; Dwarfism; Metabolic Diseases

1954
Demonstration of cystine crystals in peripheral white blood cells in a patient with cystinosis.
    The New England journal of medicine, 1960, 03-17, Volume: 262

    Topics: Cystine; Cystinosis; Humans; Leukocytes

1960
The degradative metabolism of L-cysteine and L-cystine in vitro by liver in cystinosis.
    The Biochemical journal, 1962, Volume: 83

    Topics: Cysteine; Cystine; Cystinosis; Humans; In Vitro Techniques; Liver

1962
Cystinosis (cystine-storage disease); report of a case with chemical isolation and quantitative determination of cystine in lymph nodes, spleen, and liver.
    A.M.A. American journal of diseases of children, 1951, Volume: 82, Issue:4

    Topics: Cystine; Cystinosis; Humans; Liver; Lymph Nodes; Spleen

1951
[On chronic aminoaciduria; comparative studies of cystinuria and cystinosis].
    Klinische Wochenschrift, 1951, Oct-01, Volume: 29, Issue:37-38

    Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Cystinuria; Humans; Urologic Diseases

1951
The de Toni-Fanconi syndrome with cystinosis.
    Acta paediatrica, 1951, Volume: 40, Issue:5

    Topics: Chronic Kidney Disease-Mineral and Bone Disorder; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney; Rickets

1951
[Significance of ocular changes in the diagnosis of infantile cystinosis].
    Klinische Monatsblatter fur Augenheilkunde und fur augenarztliche Fortbildung, 1951, Volume: 119, Issue:2

    Topics: Cystine; Cystinosis; Eye; Head; Humans; Muscles

1951
[Cystinuria, cystinic lithiasis and cystinosis; two recent observations].
    Journal de medecine de Bordeaux et du Sud-Ouest, 1952, Volume: 129, Issue:1

    Topics: Cystine; Cystinosis; Cystinuria; Humans; Lithiasis

1952
Cystine storage disease with amino-aciduria.
    Lancet (London, England), 1952, May-31, Volume: 1, Issue:6718

    Topics: Amino Acids; Antifibrinolytic Agents; Cystine; Cystinosis; Humans

1952
Cystinosis.
    Archives of disease in childhood, 1952, Volume: 27, Issue:134

    Topics: Cystine; Cystinosis; Humans

1952
An anatomic study of a case of cystinosis.
    Stanford medical bulletin, 1952, Volume: 10, Issue:3

    Topics: Cystine; Cystinosis; Humans

1952
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
    Human molecular genetics, 2004, Jul-01, Volume: 13, Issue:13

    Topics: Amino Acid Sequence; Amino Acid Transport Systems; Amino Acid Transport Systems, Neutral; Biological Transport; Cystine; Cystinosis; Glycoproteins; HeLa Cells; Humans; Lysosomes; Membrane Proteins; Membrane Transport Proteins; Molecular Sequence Data; Mutation; Protein Structure, Tertiary; Sequence Alignment; Sequence Homology, Amino Acid

2004
Cysteamine prevents and reverses the inhibition of pyruvate kinase activity caused by cystine in rat heart.
    Biochimica et biophysica acta, 2004, Jun-28, Volume: 1689, Issue:2

    Topics: Animals; Cysteamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Enzyme Activation; Heart; Myocardium; Organ Culture Techniques; Pyruvate Kinase; Rats; Rats, Wistar

2004
[Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC].
    Medicina clinica, 2004, Jun-19, Volume: 123, Issue:3

    Topics: Adult; Amino Acid Transport Systems, Neutral; Chromatography, High Pressure Liquid; Cystine; Cystinosis; Female; Genetic Carrier Screening; Glycoproteins; Humans; Leukocytes; Membrane Proteins; Membrane Transport Proteins; Pedigree

2004
Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy.
    Clinical chemistry, 2004, Volume: 50, Issue:9

    Topics: Cysteamine; Cystine; Cystinosis; Humans; Neutrophils

2004
[Cystinosis: deposition of cystine crystals in the bone marrow of a 27-year-old man].
    MMW Fortschritte der Medizin, 2004, Jun-10, Volume: 146, Issue:24

    Topics: Adult; Antigens, CD; Antigens, Differentiation, Myelomonocytic; Biopsy, Needle; Bone Marrow; Crystallization; Cystine; Cystinosis; Glomerulonephritis, Membranous; Humans; Infant, Newborn; Kidney Transplantation; Male; Postoperative Complications

2004
Perioperative care of the patient with nephropathic cystinosis.
    Paediatric anaesthesia, 2004, Volume: 14, Issue:10

    Topics: Anesthesia, General; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Infant; Kidney Diseases; Molar, Third; Oral Surgical Procedures; Perioperative Care; Photophobia; Renal Insufficiency; Tooth, Impacted; Water-Electrolyte Balance

2004
Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines.
    Biochemical and biophysical research communications, 2004, Nov-05, Volume: 324, Issue:1

    Topics: Adolescent; Amino Acid Transport Systems, Neutral; Animals; Cell Line; Child; Cystine; Cystinosis; Fibroblasts; Glutathione; Glycoproteins; Humans; Infant; Membrane Proteins; Membrane Transport Proteins; Mutation; Oxidation-Reduction; Protein Precursors; Superoxide Dismutase

2004
Treatment of cystinosis: simple in principle, difficult in practice.
    The Journal of pediatrics, 2004, Volume: 145, Issue:4

    Topics: Adolescent; Child; Cysteamine; Cystine; Cystinosis; Drug Administration Schedule; Humans; Patient Compliance

2004
Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
    Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2005, Feb-18, Volume: 37, Issue:1

    Topics: Apoptosis; Cystine; Cystinosis; Humans; Lysosomes; Phenotype

2005
Cysteamine prevents and reverses the inhibition of creatine kinase activity caused by cystine in rat brain cortex.
    Neurochemistry international, 2005, Volume: 46, Issue:5

    Topics: Adenosine Diphosphate; Animals; Binding, Competitive; Cerebral Cortex; Creatine Kinase; Cysteamine; Cystine; Cystinosis; Cytosol; Dose-Response Relationship, Drug; Enzyme Activation; Enzyme Inhibitors; Glutathione; Mitochondria; Nerve Degeneration; Phosphocreatine; Rats; Rats, Wistar; Subcellular Fractions

2005
Altered status of glutathione and its metabolites in cystinotic cells.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2005, Volume: 20, Issue:9

    Topics: Adolescent; Adult; Cells, Cultured; Child; Child, Preschool; Cornea; Cystine; Cystinosis; Dipeptides; Female; Fibroblasts; Glutathione; Glutathione Disulfide; Humans; Male; Neutrophils; Oxidative Phosphorylation; Skin

2005
[Concerning an article published recently in Annales de Pédiatrie].
    Annales de pediatrie, 1978, Jan-02, Volume: 25, Issue:1

    Topics: Child; Cystine; Cystinosis; Fetal Blood; Humans; Hypercalcemia; Hypocalcemia; Kidney Failure, Chronic; Leukocytes; Renal Dialysis

1978
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation.
    Journal of clinical pathology, 2005, Volume: 58, Issue:9

    Topics: Adolescent; Bleeding Time; Blood Platelets; Child; Cystine; Cystinosis; Cytoplasmic Granules; Fanconi Syndrome; Female; Humans; Infant; Male; Microscopy, Electron; Platelet Aggregation; Platelet Function Tests

2005
Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells.
    Biochemical and biophysical research communications, 2005, Nov-18, Volume: 337, Issue:2

    Topics: Adenosine Triphosphate; CD13 Antigens; Cells, Cultured; Cystine; Cystinosis; Epithelial Cells; Glutathione Disulfide; Humans; Kidney Tubules, Proximal; Low Density Lipoprotein Receptor-Related Protein-2

2005
Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells.
    Prenatal diagnosis, 2005, Volume: 25, Issue:11

    Topics: Abortion, Eugenic; Amniocentesis; Cells, Cultured; Chorionic Villi Sampling; Cystine; Cystinosis; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Outcome

2005
Confocal microscopy of the cornea in nephropathic cystinosis.
    The British journal of ophthalmology, 2005, Volume: 89, Issue:11

    Topics: Child; Corneal Diseases; Crystallization; Cystine; Cystinosis; Epithelium, Corneal; Humans; Male; Microscopy, Confocal

2005
Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis.
    Pediatric nephrology (Berlin, Germany), 2006, Volume: 21, Issue:1

    Topics: Adolescent; Child; Cysteamine; Cystine; Cystinosis; Drug Administration Schedule; Female; Humans; Male; Neutrophils; Time Factors

2006
Increased free-cystine content of fibroblasts cultured from patients with cystinosis.
    Biochemical and biophysical research communications, 1967, Nov-30, Volume: 29, Issue:4

    Topics: Cells, Cultured; Cystine; Cystinosis; Fibroblasts; Genetic Carrier Screening; Humans; Microscopy, Phase-Contrast; Skin; Subcellular Fractions

1967
Understanding intestinal cysteamine bitartrate absorption.
    The Journal of pediatrics, 2006, Volume: 148, Issue:6

    Topics: Adolescent; Adult; Area Under Curve; Cysteamine; Cystine; Cystinosis; Delayed-Action Preparations; Female; Gastrins; Humans; Intestinal Absorption; Leukocytes; Male; Quality of Life

2006
Inhibition of creatine kinase activity by cystine in the kidney of young rats.
    Pediatric research, 2006, Volume: 60, Issue:2

    Topics: Age Factors; Animals; Creatine Kinase; Cystine; Cystinosis; Kidney; Rats; Rats, Wistar; Sulfhydryl Compounds

2006
Cystine inhibits creatine kinase activity in pig retina.
    Archives of medical research, 2007, Volume: 38, Issue:2

    Topics: Animals; Cell Fractionation; Creatine Kinase; Cystine; Cystinosis; Male; Retina; Sus scrofa

2007
Nephropathic cystinosis with bone marrow involvement.
    British journal of haematology, 2007, Volume: 136, Issue:2

    Topics: Adult; Crystallization; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Kidney Diseases; Kidney Tubules; Macrophages

2007
Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry.
    Clinical biochemistry, 2007, Volume: 40, Issue:9-10

    Topics: Chromatography, Liquid; Cystine; Cystinosis; Escherichia coli Proteins; Granulocytes; Humans; Tandem Mass Spectrometry

2007
Promotion of oxidative stress in kidney of rats loaded with cystine dimethyl ester.
    Pediatric nephrology (Berlin, Germany), 2007, Volume: 22, Issue:8

    Topics: Animals; Catalase; Cysteamine; Cystine; Cystinosis; Drug Interactions; Fluoresceins; Glutathione Peroxidase; Hydrogen Peroxide; Kidney; Lipid Peroxidation; Oxidation-Reduction; Oxidative Stress; Proteins; Random Allocation; Rats; Rats, Wistar; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances

2007
Cystine dimethylester model of cystinosis: still reliable?
    Pediatric research, 2007, Volume: 62, Issue:2

    Topics: Adenosine Triphosphate; Amino Acid Transport Systems, Neutral; Cell Survival; Cells, Cultured; Cystine; Cystinosis; Dose-Response Relationship, Drug; Fibroblasts; Gene Deletion; Humans; Lysosomes; Mitochondria; Reproducibility of Results; Skin; Sodium-Potassium-Exchanging ATPase; Superoxides; Time Factors

2007
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
    Clinical journal of the American Society of Nephrology : CJASN, 2008, Volume: 3, Issue:1

    Topics: Adolescent; Adult; Age of Onset; Biopsy; Child; Cornea; Crystallization; Cystine; Cystinosis; Family Health; Fanconi Syndrome; Female; Genotype; Glomerular Filtration Rate; Granulocytes; Humans; Kidney; Male; Microscopy, Electron; Middle Aged; Severity of Illness Index

2008
Cysteamine prevents inhibition of thiol-containing enzymes caused by cystine or cystine dimethylester loading in rat brain cortex.
    Metabolic brain disease, 2008, Volume: 23, Issue:2

    Topics: Animals; Antioxidants; Cerebral Cortex; Creatine Kinase; Cysteamine; Cystine; Cystinosis; Disease Models, Animal; Enzyme Inhibitors; Lysosomes; Oxidation-Reduction; Oxidative Stress; Pyruvate Kinase; Rats; Rats, Wistar; Sulfhydryl Compounds

2008
Hematological manifestations of nephropathic cystinosis.
    Acta haematologica, 2008, Volume: 119, Issue:3

    Topics: Adult; Antilymphocyte Serum; Bone Marrow; Combined Modality Therapy; Crystallization; Cysteamine; Cystine; Cystinosis; Humans; Immunosuppressive Agents; Kidney Failure, Chronic; Kidney Transplantation; Macrophages; Male; Pancytopenia; Postoperative Complications; T-Lymphocytes

2008
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis.
    Science (New York, N.Y.), 1967, Sep-15, Volume: 157, Issue:3794

    Topics: Acid Phosphatase; Cell Nucleus; Cysteine; Cystine; Cystinosis; Cytoplasmic Granules; Ethylmaleimide; Humans; Leukocytes; Molecular Biology

1967
[Clinical course study in thrombophilia].
    Folia haematologica (Leipzig, Germany : 1928), 1984, Volume: 111, Issue:4

    Topics: Antithrombin III Deficiency; Blood Coagulation Tests; Carcinoma, Hepatocellular; Chlormadinone Acetate; Contraceptives, Oral, Combined; Cystine; Cystinosis; Drug Combinations; Female; Follow-Up Studies; Humans; Immune Complex Diseases; Kidney Calculi; Liver Neoplasms; Mestranol; Middle Aged; Norethindrone; Pulmonary Embolism; Thromboembolism; Thrombophlebitis

1984
Decrease of intracellular cystine content in cystinotic fibroblasts by inhibitors of gamma-glutamyl transpeptidase.
    The Journal of biological chemistry, 1981, May-10, Volume: 256, Issue:9

    Topics: Amino Acids; Cells, Cultured; Cystine; Cystinosis; Fibroblasts; gamma-Glutamyltransferase; Glutamates; Humans; Kinetics; Maleates; Serine; Skin

1981
Characteristics of gamma-glutamyltranspeptidase in cultured skin fibroblasts from normals and cystinotics.
    Enzyme, 1981, Volume: 26, Issue:3

    Topics: Cells, Cultured; Child; Coumarins; Cystine; Cystinosis; Fibroblasts; gamma-Glutamyltransferase; Glycylglycine; Humans; Hydrogen-Ion Concentration; Kinetics; Skin

1981
Accumulation of cystine from glutathione-cysteine mixed disulfide in cystinotic fibroblasts; blockade by an inhibitor of gamma-glutamyl transpeptidase.
    Life sciences, 1982, Dec-06, Volume: 31, Issue:23

    Topics: Cystine; Cystinosis; Dipeptides; Dose-Response Relationship, Drug; Fibroblasts; gamma-Glutamyltransferase; Glutathione; Glutathione Disulfide; Humans; Time Factors

1982
[Treatment of cystinosis with cysteamine].
    Presse medicale (Paris, France : 1983), 1983, Jan-22, Volume: 12, Issue:3

    Topics: Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; In Vitro Techniques; Infant; Male

1983
ATP-dependent lysosomal cystine efflux is defective in cystinosis.
    The Journal of biological chemistry, 1982, Nov-25, Volume: 257, Issue:22

    Topics: Adenosine Triphosphate; Cell Line; Cell Transformation, Viral; Cystine; Cystinosis; Herpesvirus 4, Human; Humans; Kinetics; Lymphocytes; Lysosomes

1982
The effect of ions and ionophores on cystine egress from human leucocyte lysosome-rich granular fraction.
    Biochimica et biophysica acta, 1984, Nov-07, Volume: 777, Issue:2

    Topics: Cations, Monovalent; Cell Membrane Permeability; Cystine; Cystinosis; Cytoplasmic Granules; Humans; Leukocytes; Lysosomes; Nigericin; Potassium; Valinomycin

1984
Cystine accumulation and clearance in normal and cystinotic fibroblasts exposed to cystine dimethyl ester.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Aug-31, Volume: 141, Issue:2-3

    Topics: Cells, Cultured; Cystine; Cystinosis; Fibroblasts; Humans; Metabolic Clearance Rate

1984
Comparative study of cystine clearance in cystinotic and I-cell fibroblasts upon exposure to cystine dimethyl ester.
    Enzyme, 1984, Volume: 32, Issue:2

    Topics: Cell Line; Cystine; Cystinosis; Electrophoresis; Fibroblasts; Humans; Kinetics; Mucolipidoses

1984
[Cysteamine in the treatment of cystinosis in children. In vitro and in vivo studies].
    Pediatrie, 1984, Volume: 39, Issue:8

    Topics: Cells, Cultured; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Eye Diseases; Female; Fibroblasts; Growth; Humans; Infant; Kidney; Leukocytes; Male

1984
Effects of cysteamine and other thiols on cystine egress from isolated lysosome-rich fractions of cystinotic and normal leucocytes.
    Clinica chimica acta; international journal of clinical chemistry, 1983, Jul-31, Volume: 132, Issue:1

    Topics: Amino Acids; Ascorbic Acid; Cysteamine; Cystine; Cystinosis; Glutathione; Half-Life; Humans; In Vitro Techniques; Leukocytes; Lysosomes; Sulfhydryl Compounds

1983
Adolescent cystinosis, presenting with proteinuria.
    The International journal of pediatric nephrology, 1983, Volume: 4, Issue:2

    Topics: Adolescent; Biopsy; Child; Conjunctiva; Cornea; Cystine; Cystinosis; Fibroblasts; Humans; Kidney; Male; Proteinuria

1983
The intralysosomal pH in cultured human skin fibroblasts in relation to cystine accumulation in patients with cystinosis.
    Biochemical and biophysical research communications, 1983, Oct-14, Volume: 116, Issue:1

    Topics: Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Hydrogen-Ion Concentration; Lysosomes

1983
Renal cell culture using autopsy material from children with cystinosis.
    In vitro, 1984, Volume: 20, Issue:1

    Topics: Autopsy; Cells, Cultured; Child, Preschool; Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Kidney; Male; Pantetheine

1984
Lysosomal cystine counter-transport in heterozygotes for cystinosis.
    American journal of human genetics, 1984, Volume: 36, Issue:2

    Topics: Biological Transport; Cells, Cultured; Child; Cystine; Cystinosis; Female; Genetic Carrier Screening; Heterozygote; Humans; Leukocytes; Lysosomes; Male

1984
Pantethine and cystamine deplete cystine from cystinotic fibroblasts via efflux of cysteamine-cysteine mixed disulfide.
    The Journal of clinical investigation, 1984, Volume: 74, Issue:2

    Topics: Cells, Cultured; Child; Cystamine; Cystine; Cystinosis; Fibroblasts; Humans; Kinetics; Pantetheine; Skin; Sulfhydryl Compounds

1984
Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine.
    The Biochemical journal, 1982, Dec-15, Volume: 208, Issue:3

    Topics: Cell Line; Cysteine; Cystine; Cystinosis; Fibroblasts; Humans; Insulin; Lysosomes; Proteins; Serum Albumin, Bovine

1982
Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes.
    The Journal of biological chemistry, 1982, Jun-10, Volume: 257, Issue:11

    Topics: Alanine; Amino Acids; Cystine; Cystinosis; Esters; Humans; Kinetics; Leucine; Leukocytes; Lysine; Lysosomes; Methionine; Phenylalanine; Tryptophan

1982
Handling of L-[35S]cystine by cysteamine-pretreated cystinotic and normal fibroblasts.
    Archives of biochemistry and biophysics, 1983, Feb-01, Volume: 220, Issue:2

    Topics: Cell Line; Cycloheximide; Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Isotope Labeling; Sulfur Radioisotopes

1983
Effect of chloroquine on handling of cystine by cystinotic fibroblasts.
    Metabolism: clinical and experimental, 1983, Volume: 32, Issue:3

    Topics: Amino Acids; Child; Chloroquine; Cystine; Cystinosis; Fibroblasts; Humans

1983
Pantethine depletes cystinotic fibroblasts of cystine.
    The Journal of pediatrics, 1983, Volume: 102, Issue:5

    Topics: Cells, Cultured; Cystamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Fibroblasts; Humans; Pantetheine; Sulfhydryl Compounds

1983
Cystine accumulation and loss in normal, heterozygous, and cystinotic fibroblasts.
    Proceedings of the National Academy of Sciences of the United States of America, 1982, Volume: 79, Issue:14

    Topics: Cell Survival; Cells, Cultured; Cysteine; Cystine; Cystinosis; Disulfides; Fibroblasts; Glutathione; Heterozygote; Humans; Lysosomes

1982
Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester.
    Proceedings of the National Academy of Sciences of the United States of America, 1982, Volume: 79, Issue:14

    Topics: Cystine; Cystinosis; Humans; In Vitro Techniques; Leukocytes; Lysosomes; Neutrophils; Time Factors

1982
[Renal transplantation in cystinosis. Report of a case].
    AMB : revista da Associacao Medica Brasileira, 1980, Volume: 26, Issue:5

    Topics: Child; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Transplantation, Homologous

1980
Treatment of cystinosis with cysteamine. A pilot study determining dose and form of application.
    Helvetica paediatrica acta, 1981, Volume: 36, Issue:5

    Topics: Child, Preschool; Cysteamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Humans; Infant; Kidney Transplantation; Pilot Projects; Postoperative Complications; Renal Dialysis

1981
Cystinotic and normal fibroblasts: differential protection in cystine-free medium by dithiothreitol.
    Pediatric research, 1982, Volume: 16, Issue:1

    Topics: Culture Media; Cystine; Cystinosis; Dithiothreitol; Fibroblasts; Humans

1982
Measurement of intracellular amino acids in cultured fibroblasts.
    Clinica chimica acta; international journal of clinical chemistry, 1982, Apr-23, Volume: 120, Issue:3

    Topics: Amino Acids; Body Fluids; Cell Line; Cells, Cultured; Child; Cystine; Cystinosis; Fetus; Fibroblasts; Humans; Infant; Intracellular Fluid; Methods; Norleucine; Time Factors

1982
Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester.
    The New England journal of medicine, 1982, Jun-17, Volume: 306, Issue:24

    Topics: Cysteine; Cystine; Cystinosis; Female; Genetic Carrier Screening; Humans; Leukocytes; Male; Sulfur Radioisotopes

1982
Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes.
    The Journal of biological chemistry, 1982, Aug-25, Volume: 257, Issue:16

    Topics: Cysteine; Cystine; Cystinosis; Ethylmaleimide; Half-Life; Heterozygote; Humans; Leukocytes; Lysosomes

1982
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.
    Science (New York, N.Y.), 1982, Sep-24, Volume: 217, Issue:4566

    Topics: Biological Transport; Carrier Proteins; Cysteine; Cystine; Cystinosis; Ethylmaleimide; Humans; Kinetics; Leukocytes; Lysosomes

1982
Two cases of cystinosis.
    The American journal of medical technology, 1982, Volume: 48, Issue:8

    Topics: Adolescent; Bone Marrow; Child; Cystine; Cystinosis; Female; Humans; Male

1982
Uptake of cystine by cystine-depleted fibroblasts from patients with cystinosis.
    Biochemical and biophysical research communications, 1981, Jan-15, Volume: 98, Issue:1

    Topics: Biological Transport; Cell Line; Child; Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Kinetics; Skin

1981
Prenatal diagnosis of nephropathic cystinosis. Pregnancy at risk ascertained through heterozygote diagnosis of parents.
    Acta paediatrica Scandinavica, 1981, Volume: 70, Issue:3

    Topics: Amniocentesis; Child; Cystine; Cystinosis; Female; Heterozygote; Humans; Infant; Leukocytes; Male; Pedigree; Pregnancy; Prenatal Diagnosis; Risk

1981
Cystinotic fibroblasts are depleted of free-cystine by acid pH medium.
    Pediatric research, 1981, Volume: 15, Issue:12

    Topics: Child; Culture Media; Cystine; Cystinosis; Fibroblasts; Humans; Hydrogen-Ion Concentration; In Vitro Techniques; Lysosomes

1981
The effect of chloroquine on the metabolism of [35S]cystine in normal and cystinotic human skin fibroblasts.
    The Biochemical journal, 1981, Dec-15, Volume: 200, Issue:3

    Topics: Aminoquinolines; Cell Line; Chloroquine; Cystine; Cystinosis; Fibroblasts; Humans; Skin; Sulfur Radioisotopes

1981
Cystine depletion of cystinotic tissues by phosphocysteamine (WR638).
    The Journal of pediatrics, 1980, Volume: 96, Issue:6

    Topics: Child; Cystaphos; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Fibroblasts; Humans; Male; Organothiophosphorus Compounds

1980
Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin.
    Pediatric research, 1980, Volume: 14, Issue:6

    Topics: Cells, Cultured; Cystine; Cystinosis; Fibroblasts; Humans; Intracellular Fluid; Pinocytosis; Serum Albumin, Bovine

1980
The effect of chloroquine on the intralysosomal accumulation of cystine in cystinotic and normal fibroblasts.
    Biochemical Society transactions, 1980, Volume: 8, Issue:5

    Topics: Biological Transport; Chloroquine; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes; Skin

1980
[Nephropathic and benign cystinosis (author's transl)].
    Klinische Monatsblatter fur Augenheilkunde, 1980, Volume: 177, Issue:3

    Topics: Adolescent; Adult; Bone Marrow; Cells, Cultured; Child; Conjunctiva; Connective Tissue; Cornea; Cystine; Cystinosis; Female; Fibroblasts; Genes, Recessive; Humans; Male; Middle Aged; Phenotype; Time Factors

1980
Renal proximal tubular epithelium from patients with nephropathic cystinosis: immortalized cell lines as in vitro model systems.
    Kidney international, 1995, Volume: 48, Issue:2

    Topics: Cell Fractionation; Cell Line, Transformed; Centrifugation, Density Gradient; Cystine; Cystinosis; Epithelium; Humans; Immunoenzyme Techniques; Kidney Tubules, Proximal; Lysosomes

1995
Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis.
    Journal of the American Society of Nephrology : JASN, 1995, Volume: 6, Issue:2

    Topics: Adenosine Triphosphate; Animals; Cystine; Cystinosis; Kidney Tubules; Male; Mitochondria; Oxygen Consumption; Potassium; Rats; Rats, Sprague-Dawley; Sodium-Potassium-Exchanging ATPase

1995
Distal vacuolar myopathy in nephropathic cystinosis.
    Annals of neurology, 1994, Volume: 35, Issue:2

    Topics: Adolescent; Adult; Cystine; Cystinosis; Humans; Kidney Diseases; Kidney Transplantation; Muscular Diseases; Neural Conduction; Vacuoles

1994
Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis.
    Biochemical and biophysical research communications, 1993, Oct-15, Volume: 196, Issue:1

    Topics: Animals; Cholesterol; Cystine; Cystinosis; Disease Models, Animal; Glucosylceramides; Humans; Lipid Metabolism; Liver; Lysosomes; Mice; Mice, Inbred BALB C; Mice, Mutant Strains; Niemann-Pick Diseases; Sphingomyelins; Tissue Distribution

1993
[A presumed case of "adolescent" cystinosis].
    Nippon Ganka Gakkai zasshi, 1993, Volume: 97, Issue:4

    Topics: Adult; Chromatography, High Pressure Liquid; Chronic Disease; Conjunctiva; Crystallization; Cystine; Cystinosis; Female; Glomerulonephritis; Humans

1993
Intravenous cysteamine therapy for nephropathic cystinosis.
    Pediatric research, 1995, Volume: 38, Issue:4

    Topics: Child, Preschool; Cysteamine; Cystine; Cystinosis; Gastrointestinal Diseases; Gastrointestinal Motility; Humans; Injections, Intravenous; Leukocytes; Male; Microscopy, Electron; Sulfides

1995
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.
    American journal of human genetics, 1996, Volume: 58, Issue:3

    Topics: Chromosome Mapping; Chromosomes, Human, Pair 17; Cystine; Cystinosis; Female; Genes, Recessive; Genetic Carrier Screening; Genotype; Haplotypes; Humans; Lod Score; Male; Microsatellite Repeats; Pedigree

1996
Visuomotor performance in children with infantile nephropathic cystinosis.
    Perceptual and motor skills, 1996, Volume: 82, Issue:1

    Topics: Adolescent; Age Factors; Brain; Brain Diseases, Metabolic; Child; Child, Preschool; Cystine; Cystinosis; Female; Humans; Male; Neuropsychological Tests; Psychomotor Disorders; Psychomotor Performance

1996
The treatment of cystinosis with cysteamine and phosphocysteamine in the United Kingdom and Eire.
    Pediatric nephrology (Berlin, Germany), 1995, Volume: 9, Issue:6

    Topics: Adolescent; Child; Child, Preschool; Cystaphos; Cysteamine; Cystine; Cystinosis; Female; Growth; Humans; Infant; Ireland; Kidney Function Tests; Leukocytes; Male; Retrospective Studies; United Kingdom

1995
Effectiveness of cysteamine and mesna in decreasing intracellular cystine content in cystinosis.
    Nephron, 1996, Volume: 74, Issue:1

    Topics: Cells, Cultured; Cysteamine; Cystine; Cystinosis; Expectorants; Humans; Mesna; Radiation-Protective Agents

1996
Utility of bone imaging in differentiation of pulmonary metastatic calcification from cystine crystal deposition in cystinosis.
    Clinical nuclear medicine, 1998, Volume: 23, Issue:1

    Topics: Bone and Bones; Calcinosis; Child; Crystallization; Cystine; Cystinosis; Diagnosis, Differential; Female; Humans; Hypothyroidism; Kidney Failure, Chronic; Lung Diseases; Opportunistic Infections; Radionuclide Imaging

1998
New method for determining cystine in leukocytes and fibroblasts.
    Clinical chemistry, 1999, Volume: 45, Issue:12

    Topics: Adult; Borohydrides; Bridged Bicyclo Compounds; Cell Extracts; Chromatography, High Pressure Liquid; Cysteamine; Cystine; Cystinosis; Ethylmaleimide; Fibroblasts; Fluorometry; Humans; Leukocytes; Middle Aged; Reproducibility of Results

1999
The bone marrow in hereditary cystinosis.
    British journal of haematology, 2000, Volume: 111, Issue:2

    Topics: Bone Marrow Cells; Cystine; Cystinosis; Graft Rejection; Humans; Infant; Kidney Transplantation; Macrophages; Male

2000
The molecular basis of Dutch infantile nephropathic cystinosis.
    Nephron, 2001, Volume: 89, Issue:1

    Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; DNA Mutational Analysis; DNA Primers; Exons; Gene Deletion; Genetic Testing; Genotype; Glycoproteins; Humans; Introns; Membrane Proteins; Membrane Transport Proteins; Netherlands; Phenotype

2001
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.
    The EMBO journal, 2001, Nov-01, Volume: 20, Issue:21

    Topics: Amino Acid Motifs; Amino Acid Transport Systems, Neutral; Animals; Biological Transport, Active; Carrier Proteins; Cell Membrane; COS Cells; Cystine; Cystinosis; Glycoproteins; Hydrogen-Ion Concentration; Lysosomes; Membrane Proteins; Membrane Transport Proteins; Mutagenesis, Site-Directed; Point Mutation; Protons; Recombinant Proteins; Sequence Deletion; Substrate Specificity; Transfection

2001
Depletion of cystine in cystinotic fibroblasts by drugs enclosed in liposomes.
    Pediatric research, 1978, Volume: 12, Issue:1

    Topics: Animals; Culture Techniques; Cysteamine; Cystine; Cystinosis; Fibroblasts; Hydrogen-Ion Concentration; Liposomes; Mice; Phosphatidylcholines

1978
Cysteamine therapy for cystinosis.
    Lancet (London, England), 1978, Sep-30, Volume: 2, Issue:8092 Pt 1

    Topics: Administration, Oral; Child, Preschool; Cysteamine; Cystine; Cystinosis; Female; Follow-Up Studies; Humans; Infant; Leukocytes; Male

1978
Cystinosis: A review.
    R.I. medical journal, 1975, Volume: 58, Issue:1

    Topics: Crystallization; Cysteine; Cystine; Cystinosis; Humans; Kidney Transplantation; Transplantation, Homologous; Uremia

1975
Ultrastructure of the liver in a case of childhood cystinosis.
    Virchows Archiv. A, Pathological anatomy and histology, 1977, Dec-29, Volume: 377, Issue:1

    Topics: Child; Cystine; Cystinosis; Cytoplasm; Extracellular Space; Female; Humans; Kupffer Cells; Liver; Microscopy, Electron

1977
[Cystinosis (author's transl)].
    Beitrage zur Pathologie, 1976, Volume: 158, Issue:3

    Topics: Child; Child, Preschool; Cystine; Cystinosis; Humans; Inclusion Bodies; Kidney

1976
Transformation of human cystinotic fibroblasts by SV40: characteristics of transformed cells with limited and unlimited growth potential.
    Journal of cellular physiology, 1977, Volume: 93, Issue:1

    Topics: Antigens, Viral; Cell Division; Cell Line; Cell Transformation, Viral; Clone Cells; Culture Media; Cystine; Cystinosis; DNA; Simian virus 40; Time Factors

1977
Transformation of skin fibroblast cells of a cystinotic patient by simian virus 40: evidence for an establishment of a permanent cell clone which retains the original metabolism defect.
    Cytobiologie, 1978, Volume: 17, Issue:1

    Topics: Adolescent; Antigens, Neoplasm; Antigens, Viral; Cell Line; Cell Transformation, Neoplastic; Cell Transformation, Viral; Chromosomes, Human; Clone Cells; Cystine; Cystinosis; Fibroblasts; Humans; Infant; Male; Simian virus 40; Skin

1978
Enzymic reduction of cystine and glutathione in cultivated human fibroblast from normal subjects and patients with cystinosis.
    The Journal of laboratory and clinical medicine, 1975, Volume: 86, Issue:3

    Topics: Animals; Cystine; Cystinosis; Electrophoresis, Starch Gel; Fibroblasts; Glutathione; Glutathione Reductase; Humans; Hydrogen-Ion Concentration; In Vitro Techniques; Isoenzymes; Kinetics; Rats; Skin

1975
Cystinotic fibroblasts accumulate cystine from intracellular protein degradation.
    Proceedings of the National Academy of Sciences of the United States of America, 1977, Volume: 74, Issue:10

    Topics: Biodegradation, Environmental; Cells, Cultured; Chloroquine; Cystine; Cystinosis; Fibroblasts; Glutathione; Humans; Proteins; Time Factors

1977
Cadaver renal transplantation in children with cystinosis.
    The American journal of medicine, 1977, Volume: 63, Issue:4

    Topics: Bone Diseases; Cadaver; Child; Cystine; Cystinosis; Fanconi Syndrome; Female; Growth; Hepatomegaly; Humans; Hypothyroidism; Kidney; Kidney Glomerulus; Kidney Transplantation; Male; Splenomegaly; Transplantation, Homologous

1977
Pediatric kidney transplantation for cystinosis.
    Journal of pediatric surgery, 1977, Volume: 12, Issue:5

    Topics: Adolescent; Child; Cystine; Cystinosis; Female; Graft Rejection; Humans; Kidney; Kidney Transplantation; Male; Thyroid Gland; Time Factors; Transplantation, Homologous

1977
Cystinosis and its therapy.
    The New England journal of medicine, 1979, Apr-05, Volume: 300, Issue:14

    Topics: Adult; Animals; Ascorbic Acid; Child; Cystine; Cystinosis; Fibroblasts; Glutathione; Humans; Kidney; Leukocytes; Skin

1979
Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease.
    Pediatric research, 1979, Volume: 13, Issue:12

    Topics: Cell Line; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes; Mucolipidoses; Skin

1979
[Adolescent cystinosis. Review of the literature and case report (author's transl)].
    Klinische Padiatrie, 1979, Volume: 191, Issue:1

    Topics: Adolescent; Age Factors; Bone Marrow; Cornea; Creatinine; Cystine; Cystinosis; Fibroblasts; Humans; Kidney Failure, Chronic; Male

1979
Adult cystinosis. A case report.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1978, Volume: 96, Issue:6

    Topics: Adolescent; Adult; Child; Conjunctiva; Corneal Diseases; Crystallization; Cystine; Cystinosis; Female; Humans; Hypertension; Kidney Diseases; Male; Retinal Detachment

1978
Assay of tissue free cystine: application to the diagnosis of cystinosis.
    Annals of clinical biochemistry, 1978, Volume: 15, Issue:3

    Topics: Biopsy; Cystine; Cystinosis; Humans; Leukocytes; Muscles

1978
[Cystinosis in adolescence - clinical and histopathological study].
    Bulletin de la Societe belge d'ophtalmologie, 1978, Issue:180

    Topics: Adolescent; Conjunctiva; Conjunctivitis; Cystine; Cystinosis; Female; Humans; Vision Disorders

1978
Factors controlling the nonprotein cystine content of cystinotic fibroblasts.
    Pediatric research, 1977, Volume: 11, Issue:1 Pt 1

    Topics: Cells, Cultured; Cystine; Cystinosis; Dithiothreitol; Fibroblasts; Leukocytes

1977
The in vivo use of dithiothreitol in cystinosis.
    Pediatric research, 1977, Volume: 11, Issue:2

    Topics: Autopsy; Body Fluids; Child; Cornea; Cystine; Cystinosis; Dithiothreitol; Growth; Hemoglobinometry; Humans; Immunoglobulins; Insulin; Intestinal Mucosa; Kidney Cortex; Liver; Male; Neutrophils; Rectum

1977
Activities of acid hydrolases in fibroblasts from normal and cystinotic children.
    Clinica chimica acta; international journal of clinical chemistry, 1977, Feb-15, Volume: 75, Issue:1

    Topics: Arylsulfatases; Cells, Cultured; Child; Cystine; Cystinosis; Fibroblasts; Galactosidases; Glycoside Hydrolases; History, 18th Century; Humans; Hydrolases; Lysosomes; Mitochondria

1977
Patterns of cystine reduction by fibroblasts from normal and cystinotic children.
    Pediatric research, 1977, Volume: 11, Issue:5

    Topics: Cell Line; Cystine; Cystinosis; Fibroblasts; Glutathione; Humans; Oxidation-Reduction

1977
Cystine metabolism in human fibroblasts. Comparison of normal, cystinotic, and gamma-glutamylcysteine synethetase-deficient cells.
    The Journal of biological chemistry, 1976, Jul-25, Volume: 251, Issue:14

    Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Cystine; Cystinosis; Erythrocytes; Fibroblasts; Humans; Kinetics; Peptide Synthases; Skin; Sulfhydryl Reagents

1976
Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.
    The Journal of clinical investigation, 1976, Volume: 58, Issue:1

    Topics: Child; Cystamine; Cysteamine; Cystine; Cystinosis; Female; Fibroblasts; Glutathione; Humans; Leukocytes; Models, Biological; Oxidation-Reduction

1976
Transport of L-cystine by cultivated skin fibroblasts of normal subjects and patients with cystinosis.
    Pediatric research, 1976, Volume: 10, Issue:7

    Topics: Amino Acids; Biological Transport; Cell Membrane; Cystathionine; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes; Skin

1976
Treatment of cystinosis by a cystine- and methionine-poor diet plus anabolic steroid: treatment of two children and survey of previous treatment results.
    Danish medical bulletin, 1976, Volume: 23, Issue:5

    Topics: Anabolic Agents; Cystine; Cystinosis; Female; Humans; Infant; Male; Methionine

1976
Glomerulonephritis in late-onset cystinosis. Report of two cases and review of the literature.
    Clinical nephrology, 1976, Volume: 6, Issue:6

    Topics: Adolescent; Biopsy; Bone Marrow; Complement C3; Cystine; Cystinosis; Fibroblasts; Glomerulonephritis; Humans; Immunoglobulins; Kidney; Kidney Glomerulus; Leukocytes; Male; Skin

1976
Effect of selenium compounds on selenium content, growth and 35S-cystine metabolism of skin fibroblasts from normal and cystinotic individuals.
    Bioinorganic chemistry, 1976, Volume: 6, Issue:3

    Topics: Amino Acids; Cystine; Cystinosis; Fibroblasts; Humans; Reference Values; Selenium; Skin

1976
Biochemical diagnosis of cystinosis using leukocytes.
    Acta paediatrica Scandinavica, 1975, Volume: 64, Issue:1

    Topics: Autoradiography; Chromatography, Thin Layer; Cysteine; Cystine; Cystinosis; Glutathione; Humans; Leukocytes; Sulfur Radioisotopes

1975
Prenatal diagnosis of cystinosis.
    The Journal of pediatrics, 1975, Volume: 87, Issue:4

    Topics: Abortion, Induced; Adult; Amniotic Fluid; Cells, Cultured; Cystine; Cystinosis; Female; Fetal Diseases; Fetus; Humans; Pregnancy; Prenatal Diagnosis; Prostaglandins; Sulfur Radioisotopes

1975
Rapid, simplified diagnosis of cystinosis in conjunctival biopsies.
    Clinical chemistry, 1975, Volume: 21, Issue:13

    Topics: Biopsy; Child; Chromatography, Paper; Conjunctiva; Cystine; Cystinosis; Female; Humans

1975
Cystinosis of bone.
    Italian journal of orthopaedics and traumatology, 1975, Volume: 1, Issue:1

    Topics: Adolescent; Bone Diseases; Cystine; Cystinosis; Diagnosis, Differential; Femur; Fibula; Histiocytes; Humans; Knee Injuries; Leg Injuries; Macrophages; Male; Osteolysis; Prognosis; Radiography; Tibia

1975
Intracellular cystine loading causes proximal tubule respiratory dysfunction: effect of glycine.
    Pediatric research, 1992, Volume: 32, Issue:6

    Topics: Animals; Cystine; Cystinosis; Glycine; In Vitro Techniques; Kidney Tubules, Proximal; Models, Biological; Ouabain; Oxygen Consumption; Rabbits; Sodium-Potassium-Exchanging ATPase

1992
[Cystinosis].
    Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7

    Topics: Administration, Oral; Cysteamine; Cystine; Cystinosis; Eye; Genes, Recessive; Humans; Kidney; Kidney Transplantation; Lysosomes

1992
[Ocular manifestations in a case of infantile cystinosis].
    Nippon Ganka Gakkai zasshi, 1992, Volume: 96, Issue:10

    Topics: Crystallization; Cystine; Cystinosis; Eye; Eye Diseases; Humans; Infant; Male

1992
Parenchymal organ cystine depletion with long-term cysteamine therapy.
    Biochemical medicine and metabolic biology, 1992, Volume: 48, Issue:3

    Topics: Adolescent; Child; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Infant; Kidney; Kidney Diseases; Liver; Lung; Male; Microscopy, Electron, Scanning; Muscles; Pancreas; Spleen

1992
[Infantile cystinosis. A new Tunisian case].
    Annales de pediatrie, 1992, Volume: 39, Issue:6

    Topics: Child, Preschool; Cysteamine; Cystine; Cystinosis; Humans; Leukocytes; Male; Ophthalmoscopy; Radiography

1992
[Cysteamine eyedrops for treatment of corneal cysteine deposits in infantile cystinosis].
    Klinische Monatsblatter fur Augenheilkunde, 1992, Volume: 201, Issue:1

    Topics: Child, Preschool; Cornea; Corneal Opacity; Crystallization; Cysteamine; Cystine; Cystinosis; Humans; Male; Ophthalmic Solutions

1992
Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts.
    Somatic cell and molecular genetics, 1992, Volume: 18, Issue:1

    Topics: Biological Transport; Cell Separation; Cell Survival; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes

1992
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.
    The Journal of pediatrics, 1992, Volume: 120, Issue:4 Pt 1

    Topics: Clone Cells; Cystine; Cystinosis; Female; Fibroblasts; Humans; Infant; Kidney; Kidney Failure, Chronic

1992
Effects of oral phosphocysteamine and rectal cysteamine in cystinosis.
    Archives of disease in childhood, 1991, Volume: 66, Issue:12

    Topics: Administration, Oral; Administration, Rectal; Adolescent; Child; Child, Preschool; Circadian Rhythm; Cystaphos; Cysteamine; Cystine; Cystinosis; Female; Humans; Infant; Leukocytes; Male; Time Factors

1991
[Intra-leukocyte cystine in cystinosis treated with cysteamine].
    Annales de biologie clinique, 1991, Volume: 49, Issue:9

    Topics: Adolescent; Adult; Binding, Competitive; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Drug Administration Schedule; Female; Humans; Infant; Leukocytes; Male; Patient Compliance; Radioimmunoassay

1991
Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.
    The Journal of clinical investigation, 1991, Volume: 87, Issue:3

    Topics: Adenosine Triphosphate; Animals; Biological Transport; Cystine; Cystinosis; Ethylmaleimide; Fanconi Syndrome; In Vitro Techniques; Kidney Tubules, Proximal; Oligomycins; Rabbits; Sodium-Potassium-Exchanging ATPase; Vanadates

1991
Culture of renal tubular cells from the urine of patients with nephropathic cystinosis.
    Journal of the American Society of Nephrology : JASN, 1991, Volume: 1, Issue:8

    Topics: Cells, Cultured; Cystine; Cystinosis; Epithelium; Fanconi Syndrome; Humans; Kidney Tubules; Urine

1991
Progression of infantile cystinosis after renal transplantation.
    Transplantation proceedings, 1991, Volume: 23, Issue:1 Pt 2

    Topics: Crystallization; Cystine; Cystinosis; Female; Graft Survival; Humans; Immunosuppression Therapy; Kidney; Kidney Transplantation; Male

1991
Captopril is not clinically useful in reducing the cystine load in cystinuria or cystinosis.
    Pediatric nephrology (Berlin, Germany), 1991, Volume: 5, Issue:1

    Topics: Adolescent; Captopril; Child; Child, Preschool; Cystine; Cystinosis; Cystinuria; Humans

1991
Stable isotope dilution analysis of cystine in granulocyte suspensions as cysteine: a powerful method for the diagnosis, the follow-up, and treatment of patients with cystinosis.
    Clinica chimica acta; international journal of clinical chemistry, 1990, Oct-31, Volume: 191, Issue:1-2

    Topics: Adolescent; Adult; Cell Separation; Child; Cysteamine; Cysteine; Cystine; Cystinosis; Gas Chromatography-Mass Spectrometry; Granulocytes; Humans; Indicator Dilution Techniques; Reference Values

1990
Central nervous system involvement in nephropathic cystinosis.
    Journal of neuropathology and experimental neurology, 1990, Volume: 49, Issue:6

    Topics: Adult; Autopsy; Brain; Brain Chemistry; Central Nervous System; Cystine; Cystinosis; Humans; Kidney Diseases; Lysosomes; Male; Microscopy, Electron

1990
Effect of cystine loading and cystine dimethylester on renal brushborder membrane transport.
    Bioscience reports, 1990, Volume: 10, Issue:5

    Topics: Animals; Biological Transport; Cells, Cultured; Cystine; Cystinosis; Fanconi Syndrome; Kidney Tubules; Male; Microvilli; Proline; Rats; Rats, Inbred Strains

1990
Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule.
    The Journal of clinical investigation, 1990, Volume: 85, Issue:2

    Topics: Animals; Biological Transport, Active; Cystine; Cystinosis; Fanconi Syndrome; Female; In Vitro Techniques; Kidney Tubules, Proximal; Leucine; Perfusion; Permeability; Rabbits; Tryptophan

1990
[Treatment of cystinosis using cysteamine].
    Annales de pediatrie, 1990, Volume: 37, Issue:2

    Topics: Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Female; Growth; Humans; Infant; Kidney; Leukocytes; Male; Time Factors

1990
Mechanism of cystine reaccumulation by cystinotic fibroblasts in vitro.
    Bioscience reports, 1990, Volume: 10, Issue:2

    Topics: Biological Transport; Cell Membrane; Cells, Cultured; Colchicine; Cysteamine; Cystine; Cystinosis; Fibroblasts; Glutamates; Humans; Kinetics; Lysosomes

1990
Depletion of cystine in cystinotic fibroblasts by homocysteine. Synergism of cysteamine with various reducing agents in depletion of cystine from cystinotic fibroblasts.
    Biochemical pharmacology, 1990, Aug-15, Volume: 40, Issue:4

    Topics: Ascorbic Acid; Cells, Cultured; Cysteamine; Cystine; Cystinosis; Fibroblasts; Glutathione; Homocysteine; Humans

1990
Hearing loss and adenoidal hypertrophy in an adolescent with nephropathic cystinosis.
    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, 1989, Volume: 101, Issue:6

    Topics: Adenoids; Adolescent; Crystallization; Cystine; Cystinosis; Hearing Loss; Hearing Loss, Bilateral; Humans; Hypertrophy; Male

1989
Crystal deposition following keratoplasty in nephropathic cystinosis.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1989, Volume: 107, Issue:12

    Topics: Adult; Corneal Transplantation; Cystine; Cystinosis; Female; Humans; Postoperative Complications; Recurrence

1989
A high performance liquid chromatography method for the analysis of 35S-cystine: application to the diagnosis of cystinosis.
    Clinica chimica acta; international journal of clinical chemistry, 1989, Sep-15, Volume: 184, Issue:1

    Topics: Amnion; Cells, Cultured; Chorionic Villi; Chromatography, High Pressure Liquid; Cystine; Cystinosis; Female; Fibroblasts; Humans; Pregnancy; Prenatal Diagnosis; Sulfur Radioisotopes

1989
Renal allografts in cystinosis and mesangial demography.
    Clinical nephrology, 1989, Volume: 32, Issue:6

    Topics: Adolescent; Adult; Biopsy; Child; Crystallography; Cystine; Cystinosis; Glomerular Mesangium; Humans; Kidney Transplantation

1989
Dark cells of cystinosis: occurrence in renal allografts.
    Human pathology, 1989, Volume: 20, Issue:5

    Topics: Adolescent; Biopsy; Child; Crystallization; Cystine; Cystinosis; Humans; Kidney; Kidney Transplantation; Microscopy, Electron; Transplantation, Homologous

1989
Has the basic metabolic defect of cystinosis been discovered?
    Pediatric nephrology (Berlin, Germany), 1989, Volume: 3, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Humans; Lysosomes

1989
Diagnosis of cystinosis with use of placenta.
    The New England journal of medicine, 1989, Aug-10, Volume: 321, Issue:6

    Topics: Cystine; Cystinosis; Female; Fetal Blood; Humans; Infant, Newborn; Placenta; Pregnancy

1989
Utilization of mercaptoethylgluconamide for depleting human cystinotic fibroblasts of their accumulated lysosomal cystine.
    Pediatric research, 1989, Volume: 26, Issue:1

    Topics: Cells, Cultured; Cystine; Cystinosis; Fibroblasts; Gluconates; Humans; Lysosomes

1989
The effects of decreased growth temperature on the cystine content of cystinotic fibroblasts.
    Biochimica et biophysica acta, 1989, Sep-04, Volume: 1013, Issue:1

    Topics: Cell Division; Cell Line; Cystine; Cystinosis; Fibroblasts; Humans; Kinetics; L-Lactate Dehydrogenase; Skin; Temperature

1989
pH-profile of cystine and glutamate transport in normal and cystinotic human fibroblasts.
    Biochimica et biophysica acta, 1985, Apr-11, Volume: 814, Issue:2

    Topics: Biological Transport, Active; Cystine; Cystinosis; Fibroblasts; Glutamates; Glutamic Acid; Humans; Hydrogen-Ion Concentration

1985
Cystine depletion by WR-1065 in cystinotic cells. Mechanism of action.
    Biochemical pharmacology, 1985, Jun-15, Volume: 34, Issue:12

    Topics: Amifostine; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Humans; In Vitro Techniques; Mercaptoethylamines; Radiation-Protective Agents; Sulfur Radioisotopes

1985
Pupillary-block glaucoma associated with childhood cystinosis.
    American journal of ophthalmology, 1986, Jun-15, Volume: 101, Issue:6

    Topics: Acute Disease; Adult; Conjunctiva; Corneal Stroma; Crystallization; Cystine; Cystinosis; Female; Glaucoma; Humans; Inclusion Bodies; Iris; Pupil

1986
Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease.
    Journal of inherited metabolic disease, 1985, Volume: 8, Issue:3

    Topics: Adolescent; Adult; alpha-Galactosidase; Biological Transport; Child; Cystine; Cystinosis; Fabry Disease; Female; Humans; Isoenzymes; Leukocytes; Male; Pedigree; Trihexosylceramides

1985
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.
    The New England journal of medicine, 1988, Dec-01, Volume: 319, Issue:22

    Topics: Adult; Cystine; Cystinosis; Humans; Male; Muscles; Muscular Diseases

1988
[Cystinosis and Salla disease].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5

    Topics: Biological Transport; Cystine; Cystinosis; Gene Expression Regulation; Genes, Recessive; Humans; Kidney; Lysosomes; N-Acetylneuraminic Acid; Sialic Acids

1988
Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis.
    The New England journal of medicine, 1988, Jul-28, Volume: 319, Issue:4

    Topics: Adult; Cesarean Section; Crystallization; Cystine; Cystinosis; Female; Humans; Infant; Infant, Newborn; Kidney Transplantation; Male; Placenta; Pregnancy; Pregnancy Complications; Pregnancy Outcome

1988
The effect of lysosomotropic detergents on the permeability properties of the lysosome membrane.
    Biochimica et biophysica acta, 1987, Jun-22, Volume: 924, Issue:3

    Topics: alpha-Glucosidases; Animals; Cystine; Cystinosis; Detergents; Fibroblasts; Humans; Imidazoles; In Vitro Techniques; Intracellular Membranes; L-Lactate Dehydrogenase; Liver; Lysosomes; Morpholines; Permeability; Rats; Surface-Active Agents

1987
A comparison of the effectiveness of cysteamine and phosphocysteamine in elevating plasma cysteamine concentration and decreasing leukocyte free cystine in nephropathic cystinosis.
    Pediatric research, 1988, Volume: 23, Issue:6

    Topics: Administration, Oral; Child; Child, Preschool; Cystaphos; Cysteamine; Cystine; Cystinosis; Gastrointestinal Contents; Humans; Infant; Leukocytes; Organothiophosphorus Compounds; Patient Acceptance of Health Care; Vomiting

1988
Cystinosis phenotypes have identical defective cystine clearance pattern.
    Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 1987, Volume: 41, Issue:9-10

    Topics: Adult; Cells, Cultured; Cysteine; Cystine; Cystinosis; Female; Fibroblasts; Heterozygote; Humans; Infant; Lysosomes; Male; Phenotype; Sulfur Radioisotopes

1987
Course of nephropathic cystinosis after age 10 years.
    The Journal of pediatrics, 1986, Volume: 109, Issue:4

    Topics: Adolescent; Adult; Child; Cystine; Cystinosis; Eye Diseases; Hepatomegaly; Humans; Kidney Failure, Chronic; Kidney Transplantation; Splenomegaly; Vision Disorders

1986
First trimester diagnosis of cystinosis using intact chorionic villi.
    Prenatal diagnosis, 1987, Volume: 7, Issue:2

    Topics: Autoradiography; Chorionic Villi; Cystine; Cystinosis; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Sulfur Radioisotopes

1987
Nephropathic cystinosis: immunohistochemical and histopathologic studies of cornea, conjunctiva and iris.
    Current eye research, 1987, Volume: 6, Issue:4

    Topics: Child; Conjunctivitis; Cornea; Cystine; Cystinosis; Histocytochemistry; Humans; Immunochemistry; Iris; Leukocytes; Male

1987
Cystine storage in cultured myotubes from patients with nephropathic cystinosis.
    The Biochemical journal, 1987, May-01, Volume: 243, Issue:3

    Topics: Cells, Cultured; Centrifugation, Density Gradient; Cysteamine; Cystine; Cystinosis; Humans; Muscles

1987
Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat: a new model of the Fanconi syndrome.
    Metabolism: clinical and experimental, 1987, Volume: 36, Issue:12

    Topics: Amino Acids; Animals; Cystine; Cystinosis; Disease Models, Animal; Fanconi Syndrome; Humans; Kidney Tubules, Proximal; Male; Methylglucosides; Rats; Rats, Inbred Strains

1987
Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis.
    American journal of ophthalmology, 1987, Dec-15, Volume: 104, Issue:6

    Topics: Adolescent; Adult; Child; Child, Preschool; Cornea; Corneal Stroma; Crystallization; Cystine; Cystinosis; Endothelium, Corneal; Humans; Kidney Diseases; Time Factors

1987
Elevated temperature produces cystine depletion in cystinotic fibroblasts.
    Biochimica et biophysica acta, 1986, Dec-10, Volume: 884, Issue:3

    Topics: Cells, Cultured; Cystathionine; Cystine; Cystinosis; Fibroblasts; Humans; Kinetics; Methionine; Skin; Temperature

1986
Disulphide reduction in lysosomes. The role of cysteine.
    The Biochemical journal, 1986, Jul-01, Volume: 237, Issue:1

    Topics: Cysteine; Cystine; Cystinosis; Disulfides; Humans; Lysosomes; Models, Biological; Oxidation-Reduction; Proteins

1986
Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts.
    The Biochemical journal, 1986, Jul-01, Volume: 237, Issue:1

    Topics: Cells, Cultured; Cystine; Cystinosis; Cytoplasmic Granules; Fibroblasts; Humans; Lysosomes; Mucolipidoses; Subcellular Fractions

1986
Lysosomal cystine transport in cystinosis variants and their parents.
    Pediatric research, 1987, Volume: 21, Issue:2

    Topics: Adult; Cystine; Cystinosis; Fibroblasts; Humans; Leukocytes; Lysosomes; Male

1987
Further studies on the effect of chloroquine on the uptake, metabolism and intracellular translocation of [35S]cystine in cystinotic fibroblasts.
    Biochimica et biophysica acta, 1986, Mar-14, Volume: 885, Issue:3

    Topics: Biological Transport; Cells, Cultured; Chloroquine; Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Hydrogen-Ion Concentration; Lysosomes

1986
Inhibitors of protein synthesis also inhibit lysosomal proteolysis. Studies using cystinotic fibroblasts.
    The Journal of clinical investigation, 1985, Volume: 75, Issue:2

    Topics: Cells, Cultured; Cycloheximide; Cystine; Cystinosis; Emetine; Fibroblasts; Humans; Lysosomes; Proteins; Puromycin

1985
Cystinosis with marked atrophy of the kidneys and thyroid. Histological and ultrastructural studies in an autopsy case.
    Acta pathologica japonica, 1985, Volume: 35, Issue:1

    Topics: Adult; Atrophy; Cystine; Cystinosis; Humans; Kidney; Lysosomes; Male; Mononuclear Phagocyte System; Myxedema; Thyroid Gland; Uremia

1985
Prenatal diagnosis of cystinosis upon exposure of amniotic cells to cystine dimethyl ester.
    Israel journal of medical sciences, 1985, Volume: 21, Issue:6

    Topics: Amniotic Fluid; Cells, Cultured; Cystine; Cystinosis; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis

1985
Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange.
    The Biochemical journal, 1985, Jun-15, Volume: 228, Issue:3

    Topics: Cystamine; Cysteamine; Cystine; Cystinosis; Cytoplasmic Granules; Disulfides; Ethylmaleimide; Half-Life; Humans; Leukocytes

1985
Metabolism of pantethine in cystinosis.
    The Journal of clinical investigation, 1985, Volume: 76, Issue:4

    Topics: Adolescent; Amidohydrolases; Animals; Child; Cysteamine; Cystine; Cystinosis; Diarrhea; Female; GPI-Linked Proteins; Humans; Intestinal Absorption; Intestinal Mucosa; Kinetics; Leukocytes; Male; Pantetheine; Rats; Rats, Inbred Strains; Sulfhydryl Compounds

1985
Long-term treatment of infantile nephropathic cystinosis with cysteamine.
    The New England journal of medicine, 1985, Dec-05, Volume: 313, Issue:23

    Topics: Bone Marrow; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Growth; Humans; Infant; Infant, Newborn; Kidney Failure, Chronic; Leukocytes; Male

1985
Lysosomal cystine storage in cystinosis and mucolipidosis type II.
    Pediatric research, 1985, Volume: 19, Issue:11

    Topics: Cells, Cultured; Cysteamine; Cysteine; Cystine; Cystinosis; Fibroblasts; Humans; Leukocytes; Liver; Lysosomes; Mucolipidoses

1985
Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts.
    Lancet (London, England), 1970, Apr-18, Volume: 1, Issue:7651

    Topics: Amino Acids; Animals; Child; Culture Techniques; Cystine; Cystinosis; Fibroblasts; Humans; Indicators and Reagents; Injections, Intravenous; Male; Rats; Tetroses

1970
Lysosomal site of crystalline deposits in cystinosis as shown by ferritin uptake.
    Archives of pathology, 1970, Volume: 90, Issue:3

    Topics: Biopsy; Child, Preschool; Conjunctiva; Crystallization; Cystine; Cystinosis; Ferritins; Histocytochemistry; Humans; Kidney Diseases; Lysosomes; Macrophages; Male; Microscopy, Electron; Staining and Labeling

1970
Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples.
    The Journal of biological chemistry, 1974, Oct-10, Volume: 249, Issue:19

    Topics: Amino Acids; Amino Acids, Diamino; Bacterial Proteins; Binding Sites; Binding, Competitive; Carbon Radioisotopes; Chromatography, DEAE-Cellulose; Chromatography, Ion Exchange; Cystathionine; Cystine; Cystinosis; Disulfides; Edetic Acid; Escherichia coli; Ethylmaleimide; Fibroblasts; Humans; Hydrogen-Ion Concentration; Isomerism; Kinetics; Lanthanum; Magnesium; Methods; Osmolar Concentration; Penicillamine; Pimelic Acids; Protein Binding; Radioligand Assay; Receptors, Drug; Sodium Chloride

1974
Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings.
    Archives of pathology, 1971, Volume: 91, Issue:3

    Topics: Cell Membrane; Cell Nucleus; Child; Cystine; Cystinosis; Cytoplasmic Granules; Humans; Inclusion Bodies

1971
[On a case of cystine thesaurismosis].
    Minerva pediatrica, 1974, Nov-10, Volume: 26, Issue:35

    Topics: Amino Acids; Bone Marrow; Bone Marrow Examination; Child, Preschool; Chromatography, Gas; Cornea; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney Diseases; Kidney Tubules; Male; Radioisotope Renography; Radionuclide Imaging

1974
Decrease in free cystine content of cultured cystinotic fibroblasts by ascorbic acid.
    Science (New York, N.Y.), 1974, Dec-13, Volume: 186, Issue:4168

    Topics: Ascorbic Acid; Cells, Cultured; Cystine; Cystinosis; Dithiothreitol

1974
Cystinosis.
    Birth defects original article series, 1974, Volume: 10, Issue:4

    Topics: Child; Conjunctiva; Cystine; Cystinosis; Fanconi Syndrome; Genotype; Humans; Kidney; Lysosomes; Phenotype

1974
Properties of cystinotic fibroblast-D98 cell hybrids studied by somatic cell hybridization.
    Nature, 1973, Aug-03, Volume: 244, Issue:5414

    Topics: Cell Line; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes; Clone Cells; Cystine; Cystinosis; Fanconi Syndrome; Female; Fibroblasts; Glucosephosphate Dehydrogenase; Humans; Hybrid Cells; Hypoxanthines; Isoenzymes; Karyotyping; Syndrome

1973
[Increase of beta-alanine in lymphocytes and thrombocytes for the biochemical diagnosis of cystinosis].
    Klinische Wochenschrift, 1972, Dec-01, Volume: 50, Issue:23

    Topics: Alanine; Blood Platelets; Chromatography; Cystine; Cystinosis; Diseases in Twins; Heterozygote; Humans; Lymphocytes

1972
Somatic cell hybridization as a tool for studying the metabolic disease cystinosis.
    Birth defects original article series, 1973, Volume: 9, Issue:1

    Topics: Chromosomes; Clone Cells; Cystine; Cystinosis; Fibroblasts; Glucosephosphate Dehydrogenase; HeLa Cells; Humans; Hybrid Cells; Isoenzymes; Phenotype

1973
Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes.
    Humangenetik, 1973, Volume: 17, Issue:4

    Topics: Cells, Cultured; Child; Cystine; Cystinosis; Fibroblasts; Genetic Counseling; Heterozygote; Homozygote; Humans; Molecular Biology; Proteins

1973
The proximal tubule and the podocyte in cystinosis.
    Nephron, 1973, Volume: 10, Issue:1

    Topics: Child, Preschool; Cystine; Cystinosis; Epithelial Cells; Fanconi Syndrome; Female; Humans; Kidney Tubules; Kidney Tubules, Proximal; Male; Microscopy; Microscopy, Electron; Syndrome

1973
Quantitation of cyst(e)ine in human fibroblasts and separation of cysteines sulfinic acid, cysteic acid and taurine.
    Clinica chimica acta; international journal of clinical chemistry, 1973, Jan-10, Volume: 43, Issue:1

    Topics: Alanine; Chromatography, Ion Exchange; Chromatography, Paper; Cysteine; Cystine; Cystinosis; Fibroblasts; Humans; Methods; Skin; Spectrophotometry; Sulfinic Acids; Sulfonic Acids; Sulfur Isotopes; Taurine

1973
[Evaluation of the dietary treatment of cystinosis].
    Monatsschrift fur Kinderheilkunde, 1973, Volume: 121, Issue:5

    Topics: Amino Acids; Child, Preschool; Cystine; Cystinosis; Diet; Diet Therapy; Evaluation Studies as Topic; Female; Follow-Up Studies; Growth; Humans; Infant; Kidney Function Tests; Male; Methionine; Rickets; Vitamin D

1973
Uptake and utilization of exogenous cystine by cystinotic and normal fibroblasts.
    The Journal of clinical investigation, 1974, Volume: 53, Issue:4

    Topics: Adolescent; Biological Transport; Carbon Radioisotopes; Cells, Cultured; Child; Child, Preschool; Culture Media; Cysteine; Cystine; Cystinosis; Fibroblasts; Glutathione; Humans; In Vitro Techniques; Infant; Kinetics; Methionine; Sulfur Radioisotopes; Time Factors; Tritium

1974
Prenatal diagnosis of cystinosis.
    The New England journal of medicine, 1974, Apr-18, Volume: 290, Issue:16

    Topics: Amniocentesis; Amniotic Fluid; Autoradiography; Cells, Cultured; Chromatography, Thin Layer; Crystallization; Cysteine; Cystine; Cystinosis; Electrophoresis, Paper; Female; Fetal Diseases; Fetus; Gestational Age; Humans; Kidney; Liver; Placenta; Pregnancy; Prenatal Diagnosis; Retina; Spleen; Thymus Gland

1974
Biochemical diagnosis of cystinosis using cultured cells.
    Archives of disease in childhood, 1974, Volume: 49, Issue:3

    Topics: Amniotic Fluid; Cells, Cultured; Chromatography, Thin Layer; Cystine; Cystinosis; Female; Fibroblasts; Glutathione; Humans; Pregnancy; Skin; Sulfur Radioisotopes

1974
Cysteine activation in cultured cystinotic cells. The specific activity of cysteinyl-tRNA synthetase and tRNACys and the determination of the Michaelis-Menten constants for cysteinyl-tRNA synthetase.
    The Journal of clinical investigation, 1974, Volume: 54, Issue:1

    Topics: Amino Acids; Cells, Cultured; Chemical Phenomena; Chemistry, Physical; Cysteine; Cystine; Cystinosis; DNA-Directed RNA Polymerases; Histocytochemistry; In Vitro Techniques; Kinetics; Mathematics; RNA, Transfer; Sulfur Radioisotopes

1974
Biochemical comparisons of the adult and childhood forms of cystinosis.
    The New England journal of medicine, 1968, Dec-05, Volume: 279, Issue:23

    Topics: Age Factors; Child; Culture Techniques; Cystine; Cystinosis; Dwarfism; Eye Manifestations; Female; Fibroblasts; Heterozygote; Histocytochemistry; Homozygote; Humans; Kidney Glomerulus; Kidney Tubules; Leukocytes; Male; Microscopy, Phase-Contrast; Middle Aged; Pigmentation

1968
Cystinosis: selective induction of vacuolation in fibroblasts by L-cysteine-D-penicillamine disulfide.
    Science (New York, N.Y.), 1970, Aug-07, Volume: 169, Issue:3945

    Topics: Biological Transport; Culture Techniques; Cysteine; Cystine; Cystinosis; Cytoplasm; Fibroblasts; Humans; Lysosomes; Microscopy, Phase-Contrast; Penicillamine; Sulfides

1970
Renal transplantation for childhood cystinosis.
    The New England journal of medicine, 1970, Aug-20, Volume: 283, Issue:8

    Topics: Biopsy; Child; Cystine; Cystinosis; Follow-Up Studies; Histocytochemistry; Humans; Immunosuppressive Agents; Kidney; Kidney Function Tests; Kidney Glomerulus; Kidney Transplantation; Microscopy, Electron; Tissue Donors; Transplantation, Homologous

1970
Ocular cystine deposits in an adult.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1972, Volume: 87, Issue:1

    Topics: Adult; Cholesterol; Chondroitin; Cystine; Cystinosis; Eye Diseases; Humans; Lipid Metabolism; Metabolic Diseases

1972
Ocular cystine deposits in an adult.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1972, Volume: 87, Issue:1

    Topics: Adult; Cystine; Cystinosis; Eye Diseases; Humans; Lipids; Metabolic Diseases

1972
Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 37

    Topics: Amniotic Fluid; Cells, Cultured; Cysteine; Cystine; Cystinosis; Female; Fetal Diseases; Fibroblasts; Glutathione; Half-Life; Heterozygote; Humans; Kinetics; Pregnancy; Skin; Sulfur Isotopes

1972
[Infantile form of cystinosis].
    Pediatria polska, 1972, Volume: 47, Issue:5

    Topics: Age Factors; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Female; Humans; Infant; Male

1972
Cystinosis. A clinical and histopathologic study.
    American journal of ophthalmology, 1972, Volume: 73, Issue:5

    Topics: Autopsy; Child; Crystallization; Cystine; Cystinosis; Epithelium; Eye; Female; Humans; Kidney Function Tests; Male; Ophthalmoscopy; Retina; Retinal Degeneration; Retinal Pigments; Vision Tests

1972
Enzymic reduction of cystine by subcellular fractions of cultured and peripheral leukocytes from normal and cystinotic individuals.
    Pediatric research, 1972, Volume: 6, Issue:8

    Topics: Adult; Cells, Cultured; Child; Child, Preschool; Cystine; Cystinosis; Glutathione Reductase; Humans; Hydrogen-Ion Concentration; Leukocytes; Lysosomes; Methods; Microsomes; Mitochondria; Oxidation-Reduction; Subcellular Fractions

1972
[Therapy of cystinosis using a synthetic diet].
    Monatsschrift fur Kinderheilkunde, 1971, Volume: 119, Issue:7

    Topics: Biopsy; Child, Preschool; Cystine; Cystinosis; Diet Therapy; Female; Hepatomegaly; Humans; Infant; Infant, Newborn; Liver; Liver Cirrhosis; Male; Methionine

1971
Adolescent cystinosis: comparisons with infantile and adult forms.
    Pediatrics, 1971, Volume: 47, Issue:6

    Topics: Adolescent; Biopsy; Bone Marrow Examination; Cells, Cultured; Creatinine; Cystine; Cystinosis; Dithiothreitol; Fibroblasts; Glomerular Filtration Rate; Heterozygote; Humans; Kidney; Leukocytes; Male; Phenotype; Proteinuria; Renal Aminoacidurias

1971
[Cystinosis. (Clinical and histopathological study)].
    Bulletin de la Societe belge d'ophtalmologie, 1971, Volume: 157, Issue:2

    Topics: Child; Cornea; Cystine; Cystinosis; Eye; Eye Diseases; Female; Humans; Male; Optic Nerve

1971
Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells.
    Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 35, Issue:2

    Topics: Amniotic Fluid; Cells, Cultured; Cysteine; Cystine; Cystinosis; Female; Fibroblasts; Glutathione; Humans; Pregnancy; Sulfur Isotopes

1971
[Cystinosis with involvement of the central nervous system and muscles (myopathy)].
    Zentralblatt fur allgemeine Pathologie u. pathologische Anatomie, 1971, Volume: 114, Issue:4

    Topics: Central Nervous System Diseases; Child; Cystine; Cystinosis; Humans; Male; Mononuclear Phagocyte System; Muscles; Muscular Diseases; Nephrosis

1971
Treatment of cystinosis with a diet poor in cystine and methionine.
    Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:6

    Topics: Amino Acids; Body Height; Body Weight; Child; Child, Preschool; Cysteine; Cystine; Cystinosis; Cystinuria; Diet Therapy; Dwarfism; Ergocalciferols; Female; Humans; Ketoglutaric Acids; Male; Methionine; Pedigree; Penicillamine; Pyruvates; Renal Tubular Transport, Inborn Errors

1970
Cystine: compartmentalization within lysosomes in cystinotic leukocytes.
    Science (New York, N.Y.), 1969, Nov-28, Volume: 166, Issue:3909

    Topics: Centrifugation, Density Gradient; Cysteine; Cystine; Cystinosis; Humans; Leukocytes; Lysosomes; Sucrose; Sulfur Isotopes

1969
[Ocular changes in cystinosis].
    Bericht uber die Zusammenkunft. Deutsche Ophthalmologische Gesellschaft, 1969, Volume: 69

    Topics: Child, Preschool; Conjunctiva; Cornea; Crystallins; Cystine; Cystinosis; Eye Manifestations; Female; Fundus Oculi; Humans; Infant; Male; Ophthalmoscopy

1969
[Cystinosis in a 2-year-old girl].
    Ceskoslovenska pediatrie, 1969, Volume: 24, Issue:10

    Topics: Blood Protein Disorders; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Female; Humans; Kidney Diseases

1969
A simple technique for the biochemical diagnosis of cystinosis.
    The Journal of pediatrics, 1970, Volume: 76, Issue:2

    Topics: Biopsy; Conjunctiva; Cystine; Cystinosis; Humans; Methods; Specimen Handling

1970
Intralysosomal cystine crystals in cystinosis.
    Investigative ophthalmology, 1970, Volume: 9, Issue:1

    Topics: Acid Phosphatase; Biopsy; Conjunctiva; Cystine; Cystinosis; Histocytochemistry; Humans; Lysosomes; Microscopy, Electron

1970
Intracellular cystine content of leukocyte populations in cystinosis.
    Archives of internal medicine, 1970, Volume: 125, Issue:4

    Topics: Cell Nucleus; Cystine; Cystinosis; Humans; Kidney Diseases; Leukocytes; Lymphocytes; Microscopy, Electron; Polymorphism, Genetic

1970
Conjunctival biopsy for the biochemical diagnosis of cystinosis.
    American journal of ophthalmology, 1970, Volume: 70, Issue:2

    Topics: Biopsy; Chromatography; Conjunctiva; Cystine; Cystinosis; Humans

1970
Benign cystinosis. The clinical, biochemical and morphologic findings in a family with two affected siblings.
    The American journal of medicine, 1970, Volume: 49, Issue:4

    Topics: Adolescent; Adult; Bone Marrow; Child; Child, Preschool; Conjunctiva; Cystine; Cystinosis; Female; Fibroblasts; Genes, Recessive; Histocytochemistry; Humans; Leukocytes; Male; Microscopy, Electron

1970
Heterozygote studies in cystinosis.
    Clinica chimica acta; international journal of clinical chemistry, 1970, Volume: 29, Issue:1

    Topics: Cystine; Cystinosis

1970
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.
    The Journal of pediatrics, 1970, Volume: 77, Issue:3

    Topics: Adult; Amniotic Fluid; Cystine; Cystinosis; Female; Fetal Diseases; Fibroblasts; Heterozygote; Humans; Pregnancy; Sulfur Isotopes

1970
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1970, Sep-08, Volume: 7, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias

1970
[Early biochemical diagnosis of cystinosis from cultured fibroblasts].
    Klinische Wochenschrift, 1970, Mar-15, Volume: 48, Issue:6

    Topics: Cells, Cultured; Child, Preschool; Culture Techniques; Cystine; Cystinosis; Cytodiagnosis; Diet Therapy; Fibroblasts; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Methods; Time Factors

1970
[Leukocytes as a test object for cystinosis therapy?].
    Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6

    Topics: Child; Chromatography; Cystine; Cystinosis; Diet Therapy; Humans; Leukocyte Count; Leukocytes; Microscopy, Electron; Proteins

1970
Ocular cystine deposits in an adult.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1971, Volume: 85, Issue:6

    Topics: Chromatography; Chromatography, Thin Layer; Conjunctiva; Cornea; Cystine; Cystinosis; Electroretinography; Eye Diseases; Humans; Male; Middle Aged; Pedigree; Surgery, Plastic

1971
[Cystinosis].
    Wiener medizinische Wochenschrift (1946), 1971, Apr-24, Volume: 121, Issue:17

    Topics: Anabolic Agents; Child; Cystine; Cystinosis; Diet, Sodium-Restricted; Humans; Male; Methionine

1971
Cystinosis: therapeutic implications of in vitro studies of cultured fibroblasts.
    The Journal of pediatrics, 1971, Volume: 78, Issue:5

    Topics: Biopsy; Child; Chromatography; Culture Techniques; Cystine; Cystinosis; Diet Therapy; Fibroblasts; Glomerulonephritis; Humans; Penicillamine; Skin; Sulfur Isotopes

1971
Identification and measurement of cysteine-homocysteine mixed disulfide in plasma.
    The Journal of laboratory and clinical medicine, 1968, Volume: 71, Issue:1

    Topics: Amino Acids; Chromatography, Ion Exchange; Cysteine; Cystine; Cystinosis; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Sulfides

1968
Cystinosis. Plasma cystine and cysteine concentrations and the effect of D-penicillamine and dietary treatment.
    The American journal of medicine, 1968, Volume: 44, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Cysteine; Cystine; Cystinosis; Cystinuria; Diet Therapy; Female; Humans; Infant; Male; Methionine; Nitrogen; Penicillamine; Pyruvates

1968
Cystinosis. Histologic and crystallographic examination of crystals in eye tissues.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1968, Volume: 80, Issue:1

    Topics: Adult; Child; Choroid; Conjunctiva; Cornea; Cystine; Cystinosis; Humans; Iris; Sclera; X-Ray Diffraction

1968
Appendicitis in a child with cystinosis.
    Archives of surgery (Chicago, Ill. : 1960), 1968, Volume: 97, Issue:4

    Topics: Appendectomy; Appendicitis; Appendix; Child, Preschool; Crystallization; Cystine; Cystinosis; Histocytochemistry; Humans; Male

1968
Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph node.
    Journal of clinical pathology, 1968, Volume: 21, Issue:5

    Topics: Acid Phosphatase; Child, Preschool; Cystine; Cystinosis; Histocytochemistry; Humans; Lymph Nodes; Lysosomes; Male; Microscopy, Electron

1968
Transport and intracellular fate of cysteine-35S in leukocytes from normal subjects and patients with cystinosis.
    Pediatric research, 1968, Volume: 2, Issue:6

    Topics: Adult; Biological Transport; Child; Child, Preschool; Culture Techniques; Cysteine; Cystine; Cystinosis; Electrophoresis; Female; Glutathione; Humans; Infant; Leukocytes; Male; Sulfur Isotopes

1968
The early diagnosis of cystinosis.
    The Journal of pediatrics, 1969, Volume: 74, Issue:1

    Topics: Amniotic Fluid; Biopsy; Bone Marrow; Chromosomes; Culture Techniques; Cystine; Cystinosis; Diet Therapy; Female; Fibroblasts; Genes, Recessive; Heterozygote; Histocytochemistry; Homozygote; Humans; Infant; Infant, Newborn; Leukocytes; Male; Ophthalmoscopy

1969
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:3

    Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine

1969
Diagnosis of cystinosis by rectal biopsy.
    The New England journal of medicine, 1969, Jul-17, Volume: 281, Issue:3

    Topics: Biopsy; Bone Marrow; Child; Child, Preschool; Cystine; Cystinosis; Female; Humans; Intestinal Mucosa; Male; Rectum

1969
Cystine storage disease. A case report with a note on the extraction of cystine from formalin-fixed tissues.
    Australasian annals of medicine, 1966, Volume: 15, Issue:1

    Topics: Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Infant

1966
[An effective dietetic and medicinal treatment of cystinosis].
    Helvetica paediatrica acta, 1966, Volume: 21, Issue:1

    Topics: Amino Acids; Child, Preschool; Cystine; Cystinosis; Diet Therapy; Humans; Kidney Function Tests; Male; Methenolone; Penicillamine; Pyruvates; Vitamin D

1966