cystine has been researched along with Cystinosis in 433 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 246 (56.81) | 18.7374 |
| 1990's | 38 (8.78) | 18.2507 |
| 2000's | 49 (11.32) | 29.6817 |
| 2010's | 56 (12.93) | 24.3611 |
| 2020's | 44 (10.16) | 2.80 |
| Authors | Studies |
|---|---|
| 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, L | 1 |
| Grebe, J; Grüneberg, M; Harms, E; Klank, S; Marquardt, T; Ottolenghi, C; Reunert, J; van Stein, C | 1 |
| Hohenfellner, K; Keidel, L; Luft, N; Priglinger, C; Priglinger, S; Schworm, B | 1 |
| Harms, E; Herzig, N; Hohenfellner, K; Holla, H; Knerr, C; Köppl, C; Landfarth, T; Müller-Felber, W; Steidle, G; Vill, K | 1 |
| Janssen, MJ; Masereeuw, R; Sendino Garví, E | 1 |
| 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, A | 1 |
| Boddaert, N; Boisgontier, J; Hummel, A; Saitovitch, A; Servais, A | 1 |
| Graceffa, V | 1 |
| 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, F | 1 |
| Gholami Yarahmadi, S; Morovvati, S; Sarlaki, F | 1 |
| 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, HB | 1 |
| Csorba, A; Kelen, K; Maka, E; Nagy, ZZ; Reusz, G; Szabó, A | 1 |
| Canalini, F; Cassiman, D; Emma, F; Goffredo, BM; Levtchenko, E; Montini, G; Pennesi, M; Peruzzi, L; Rossi, S; Verrina, E | 1 |
| Cairns, D; Hector, E; Michael Wall, G | 1 |
| Gahl, WA; Haffner, D; Hohenfellner, K; Nießl, C; Oh, J; Okorn, C; Palm, K; Schlingmann, KP; Wygoda, S | 1 |
| El Omari, K; Löbel, M; Newstead, S; Parker, JL; Salphati, SP; Tucker, SJ; Wagner, A | 1 |
| Beck, BB; Bieniaś, B; Grenda, R; Kieć-Wilk, B; Kowalczyk, M; Marquardt, T; Nosek, H; Rubik, J; Sikora, P; Surowiec, P; Szymczak, M; Zaniew, M | 1 |
| Balachandran, P; Daruish, M; Kiely, C; Kwan, Z; Stefanato, CM | 1 |
| 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, A | 1 |
| Addobbati, R; Decorti, G; Del Savio, R; Franzin, M; Rossetto, S; Ruoso, R; Stocco, G | 1 |
| Al-Sabban, E; Alsaad, KO; Berlingerio, SP; Bondue, T; Kouraich, A; Levtchenko, E; Marie, S; van den Heuvel, L; Veys, K | 1 |
| Keidel, LF; Kruse, F; Luft, N; Priglinger, C; Priglinger, S | 1 |
| Alzahrani, K; Biswas, S; Radhakrishnan, H | 1 |
| 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, S | 1 |
| Haffner, D; Hohenfellner, K; Zerell, K | 1 |
| Hohenfellner, K; Keidel, LF; Kruse, F; Luft, N; Priglinger, C; Priglinger, S; Schworm, B | 1 |
| Aase, SA; Bjerre, A; Brackman, D; Forsberg, B; Gudmundsdottir, H; Radtke, M; Siva, C; Woldseth, B | 1 |
| Amlal, H; Cheng, YC; Dong, F; Fry, M; Hu, YC; Kao, WW; Venkatakrishnan, J; Yuan, Y; Zhang, J | 1 |
| Berquez, M; Chen, Z; Devuyst, O; Domenici, E; Festa, BP; Gaponova, A; Keller, SA; Korzinkin, M; Krohn, P; Laczko, E; Luciani, A; Parolo, S | 1 |
| Hahn, SH; Li, M; Thoene, J; Venkatarangan, V; Yang, X; Zhang, W | 1 |
| 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, LR | 1 |
| 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, L | 1 |
| Bachhawat, AK; Deshpande, AA; Kanakaraj, A; Ravichandran, R; Vashist, N | 1 |
| Azimpour, K; Carlot, S; Game, D; Lashilola, S; McCarthy, M; van der Voort, J; Xu, W | 1 |
| 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, R | 1 |
| 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, MF | 1 |
| Akpa, MM; Alroy, I; Brasell, EJ; Chu, LL; Corsini, R; Eshkar-Oren, I; Gilfix, BM; Goodyer, P; Huertas, P; Yamanaka, Y | 1 |
| Canbay, E; Çoker, M; Sezer, ED; Sözmen, EY; Uçar, SK | 1 |
| D'Souza, RF; Davidson, AJ; Harrison, PT; Hollywood, JA; Holm, TM; Przepiorski, A; Sreebhavan, S; Wolvetang, EJ | 1 |
| Cornelissen, EAM; Elmonem, MA; Hohenfellner, K; Janssen, MC; Levtchenko, E; Prencipe, G; van den Heuvel, LP; Van Dyck, M; Veys, KRP | 1 |
| Topaloglu, R | 1 |
| Akhan, O; Çiftci, T; Demir, H; Demir, N; Gülhan, B; Gültekingil, A; Ozaltin, F; Temucin, ÇM; Topaloglu, R; Yuce, A | 1 |
| Adelmann, CH; Chan, SH; Chen, B; Condon, KJ; Kunchok, T; Lewis, CA; Sabatini, DM; Traunbauer, AK | 1 |
| Antignac, C; Bengali, M; Cherqui, S; Dohil, MA; Dohil, R; Goodman, S; Hernandez, L; Jain, S; Lobry, T; Newbury, R; Sun, X | 1 |
| Chauhan, A; Kompella, UB; Liu, Z | 1 |
| 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, K | 1 |
| Baudouin, C; Labbé, A; Le Mouhaër, J; Liang, H; Plisson, C | 1 |
| Alisheri, A; Cabrera-Serrano, M; Junckerstorff, RC; Laing, NG; Lamont, PJ; Pestronk, A; Weihl, CC | 1 |
| Delibaş, A; Kayacan, UR; Sürmeli Döven, S; Ünal, S | 1 |
| Brand, E; Canaan-Kuehl, S; Kaufeld, J; Kurschat, C; Oh, J; Pape, L; Weber, LT | 1 |
| Chauhan, A; Christopher, K; Dixon, P | 1 |
| Brasell, EJ; Chu, L; El Kares, R; Goodyer, P; Iglesias, DM; Loesch, R; Seo, JH | 1 |
| 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, KRP | 1 |
| Langman, CB | 1 |
| Catz, SD; Cherqui, S; Johnson, JL; Monfregola, J; Napolitano, G; Rocca, CJ | 1 |
| Fujii, Y; Kaneko, K; Kimata, T; Kino, M; Tohda, A | 1 |
| Baudouin, C; Charbit, M; Deschênes, G; Guest, G; Labbé, A; Loirat, C; Niaudet, P | 1 |
| 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, P | 1 |
| Caiello, I; Cherqui, S; De Benedetti, F; Emma, F; Petrini, S; Prencipe, G; Whisenant, T | 1 |
| Chevalier, RL | 1 |
| Besbas, N; Bilginer, Y; Gultekingil Keser, A; Topaloglu, R | 1 |
| Gajjar, P; Leisegang, F; Nandhlal, J; Nourse, P; Owen, EP; Van der Watt, G | 1 |
| 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, L | 1 |
| Cambazard, F; Cinotti, E; Labeille, B; Perrot, JL | 1 |
| Bernardini, I; Gahl, WA; Nesterova, G; Williams, C | 1 |
| Catz, SD; Cherqui, S; He, J; Johnson, JL; Monfregola, J; Napolitano, G; Pestonjamasp, K; Rocca, CJ | 1 |
| Lyou, Y; Nangia, CS; Zhao, X | 1 |
| Sade, S; Stevens, MS; Walsh, S | 1 |
| Sthel, VM; Vicari, P | 1 |
| Mauvieux, L; Monier, L | 1 |
| Cherqui, S; Courtoy, PJ; Gaide Chevronnay, HP; Janssens, V; Liao, XH; Pierreux, CE; Refetoff, S; Rocca, CJ; Van Der Smissen, P | 1 |
| Barshop, BA; Gangoiti, JA; Gertsman, I; Holmes, B; Johnson, WS; Nishikawa, C | 1 |
| 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, J | 1 |
| Elmonem, MA; Levtchenko, E; Soliman, NA; van den Heuvel, LP; van Dyck, M; Veys, KR | 1 |
| Barshop, BA; Deschênes, G; Emma, F; Goodyer, P; Langman, CB; Levtchenko, EN; Lipkin, G; Midgley, JP; Ottolenghi, C; Servais, A; Soliman, NA; Thoene, JG | 1 |
| Ahlenstiel-Grunow, T; Drube, J; Froede, K; Kanzelmeyer, NK; Kreuzer, M; Lerch, C; Pape, L | 1 |
| Acharya, G; Isenhart, LC; Jester, JV; Lee, B; Li, F; Liu, X; Marcano, DC; Pflugfelder, SC; Shin, CS; Simpson, J | 1 |
| Bellomo, F; De Leo, E; De Matteis, MA; Emma, F; Pastore, A; Petrini, S; Polishchuk, E; Polishchuk, R; Rega, LR; Taranta, A | 1 |
| Cherqui, S; Courtoy, PJ | 1 |
| 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, LP | 1 |
| Arevalo, JF; Kozak, I; Shoughy, SS | 1 |
| Antignac, C; Disson, O; Dubois, G; Hippert, C; Ibanes, S; Jacquet, C; Kalatzis, V; Kremer, EJ; Morin, C; Schwendener, R | 1 |
| DeVilliers, P; Gutta, R; Szymela, VF | 1 |
| Ahishali, B; Altunsoy, M; Kocabora, MS; Ozbilen, KT; Taskapili, M | 1 |
| Besouw, MT; Janssen, MC; Kremer, JA; Levtchenko, EN | 1 |
| Berger, JR; Dillon, DA; Goldstein, SJ; Nelson, P; Young, BA | 1 |
| Barshop, BA; Fidler, MC; Gangoiti, JA; Schneider, JA | 1 |
| Baudouin, C; Charbit, M; Guest, G; Labbé, A; Loirat, C; Niaudet, P | 1 |
| Bava, S; Frank, LR; Hesselink, JR; May, SJ; Sach, M; Theilmann, RJ; Trauner, DA; Vu, D | 1 |
| Feksa, LR; Figueiredo, VC; Wannmacher, CM | 1 |
| Coelho, D; Macário, MC; Murta, J; Quadrado, MJ; Tavares, R; Torres, A | 1 |
| Horváth, Z; Vécsei, L | 1 |
| Antignac, C; Bailleux, A; Chol, M; Devuyst, O; Gubler, MC; Kalatzis, V; Morisset, L; Nevo, N | 1 |
| Dakshinamurty, KV; Prasad, N; Ram, R; Reddy, PN; Swarnalatha, G | 1 |
| Barshop, BA; Cabrera, BL; Dohil, R; Fidler, M; Gangoiti, JA; Schneider, JA | 1 |
| Larsen, CP; Thoene, JG; Walker, PD | 1 |
| Emma, F; Levtchenko, EN; Wilmer, MJ | 1 |
| Grünfeld, JP; Servais, A | 1 |
| Alp, H; Çayır, A; Koşan, C; Özkan, B | 1 |
| Cherqui, S; Flynn, K; Jester, B; Jester, J; Nien, CJ; Simpson, J | 1 |
| Bahadoran, P; Ballotti, R; Berard, E; Cailliez, M; Chiavérini, C; Guest, G; Kang, HY; Lacour, JP; Niaudet, P; Ortonne, JP; Sillard, L | 1 |
| Flynn, KJ; Jester, JV; Nien, CJ; Simpson, JL | 1 |
| Bouazza, N; Chadefaux-Vekemans, B; Deschenes, G; Niaudet, P; Ottolenghi, C; Ricquier, D; Tréluyer, JM; Urien, S | 1 |
| Carrigg, A; Dohil, R; Newbury, R | 1 |
| 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, M | 1 |
| Buchan, B; Cairns, D; Kay, G; Matthews, KH | 1 |
| Abdulsalam, AH; Bain, BJ; Khamis, MH | 1 |
| 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, J | 1 |
| Arias, A; García-Villoria, J; Hernández-Pérez, JM; Ribes, A | 1 |
| Cherqui, S; Harrison, F; Kohn, DB; Rocca, CJ; Salomon, DR; Yeagy, BA | 1 |
| Gahl, WA; Schneider, JA; Thoene, JG | 1 |
| Cualing, H; Gebrail, F; Knapp, M; Perotta, G | 1 |
| Abitbol, M; Antignac, C; Broyer, M; Cherqui, S; Gogat, K; Gubler, MC; Hamard, G; Kalatzis, V; Pequignot, MO; Sevin, C; Sich, M | 1 |
| Antignac, C; Kalatzis, V | 1 |
| Dixit, MP; Greifer, I | 1 |
| Pintos, G | 1 |
| GUILD, HG; HOOVER, RE; WALSH, FB | 1 |
| BROWN, RJ | 1 |
| BENTEGEAT, J; DUPUY, P; VERGER, P | 2 |
| TABENKIN, PA; WEINBERG, SR | 1 |
| KENNEDY, JA | 1 |
| BICKEL, H | 2 |
| BROENDSTRUP, P | 1 |
| CLARKE, BE; JACKSON, HF | 1 |
| HELLNER, E; LINNEWEH, F | 1 |
| LIGNAC, GO | 2 |
| WEBER, H | 1 |
| FREUDENBERG, E | 2 |
| SCHWARZ, W | 1 |
| CAUSSADE, L; NEIMANN, N; PIERSON, M | 1 |
| MACDONALD, WB; MOORE, AE; PERRY, JW | 1 |
| FAGG, G | 1 |
| DEBRE, R; ROYER, P | 1 |
| AUSSANNAIRE, M; CARAMANIAN, M; JAMMET, ML; LAMY, M | 1 |
| FREUDENBERG, E; ROULET, F | 1 |
| BURKI, E | 1 |
| FANCONI, G; PARKER, WS; PRADER, A | 1 |
| DELBEKE, MJ; HOOFT, C | 1 |
| COGAN, DG; KINOSHITA, J; KUWABARA, T; RING, H; SUDARSKY, D | 1 |
| LOMICKOVA, H | 1 |
| TIDDENS, HA | 1 |
| LECOMTE-RAMIOUL, S | 1 |
| SCHIAVINI, CA | 2 |
| JEUNE, M | 2 |
| BRUNEAU, Y; GRISLAIN, JR; KERNEIS, JB; LEMOINE, P | 1 |
| SAUTER, EK | 1 |
| DERN, PL | 1 |
| COGAN, DG; KINOSHITA, J; KUWABARA, T; MEROLA, L; SHEEHAN, L | 1 |
| DORITIS, C; PAUL, JR; SKINNER, W | 1 |
| KRETCHMER, N | 1 |
| HARPER, HA; KOLB, FO; SMITH, DR | 1 |
| FANCONI, G; PRADER, A | 1 |
| LINNEWEH, F; WILLENBOCKEL, U | 1 |
| ANTENER, I; BERGER, H; BRECHBUEHLER, T; STALDER, G | 1 |
| GIOACCHINI, B; LOMBARDI, R; MEMEO, SA | 1 |
| LINNEWEH, F | 2 |
| FRAZIER, PD; LIETMAN, PS; SEEGMILLER, JE | 1 |
| KUHN, RJ; PETERSON, BJ | 1 |
| PATRICK, AD | 2 |
| BARTHELMAI, W; GRAUL, EH; HUNDESHAGEN, H; KIRSTEN, E; KIRSTEN, R; LINNEWEH, F; SCHAUMLOEFFEL, E | 1 |
| ALGAN, B; CORDIER, J; THOMAS, C | 1 |
| Korn, D | 1 |
| KING, FP; LOCHRIDGE, EP | 1 |
| DRABLOS, A | 1 |
| MULLER, HK | 1 |
| BICKEL, H; SMELLIE, JM | 1 |
| WILLIAMSON, DA | 1 |
| KING, WB | 1 |
| Blom, H; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, M | 1 |
| Antignac, C; Cherqui, S; Gasnier, B; Kalatzis, V; Nevo, N | 1 |
| de Souza Wyse, AT; Rosa, TG; Wajner, M; Wannmacher, CM | 1 |
| Bravo Soto, JA; Cabrera Morales, CM; Cantón, J; Martínez Llamas, MS; Pedrinaci, S | 1 |
| Blom, H; de Graaf-Hess, A; Levtchenko, E; Monnens, L; van den Heuvel, L; Wilmer, M | 2 |
| Gauer, IC; Grabenhorst, U; Merz, H | 1 |
| Ray, TL; Tobias, JD | 1 |
| Antignac, C; Cherqui, S; Chol, M; Nevo, N; Rustin, P | 1 |
| Schneider, JA | 3 |
| Thoene, JG | 2 |
| de Souza Wyse, AT; Dutra-Filho, CS; Fleck, RM; Giacomazzi, J; Parissoto, D; Rodrigues Junior, V; Wajner, M; Wannmacher, CM | 1 |
| Broyer, M | 2 |
| Altay, C; Büyükasik, Y; Coskun, T; Erdemli, E; Kalkanoğlu, HS; Kesimer, M; Okur, H; Olcay, L | 1 |
| Blom, HJ; de Graaf-Hess, A; Dijkman, HB; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, MJ | 1 |
| Jackson, M; Young, E | 1 |
| Alsuhaibani, AH; Khan, AO; Wagoner, MD | 1 |
| Blom, HJ; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van Dael, CM; van den Heuvel, LP; Wilmer, MJ | 1 |
| Bradley, KH; Rosenbloom, FM; Schneider, JA; Seegmiller, JE | 1 |
| Barshop, BA; Deutsch, R; Dohil, R; Fidler, M; Gangoiti, J; Martin, M; Schneider, JA | 1 |
| Athaydes, GA; De Souza Wyse, AT; Dornelles, PK; Dutra-Filho, CS; Feksa, LR; Rech, VC; Rodrigues-Junior, V; Wajner, M; Wannmacher, CM | 1 |
| Zachwieja, J | 1 |
| Duval Wannmacher, CM; Pereira Oliveira, PR; Rech, VC; Rodrigues-Junior, V | 1 |
| Bhartia, S; Bigley, V; Wood, A | 1 |
| Aupetit, J; Chabli, A; Chadefaux-Vekemans, B; Raehm, M; Ricquier, D | 1 |
| Arevalo do Amaral, MF; Dutra-Filho, CS; Duval Wannmacher, CM; Feksa, LR; Koch, GW; Rech, VC; Terezinha de Souza Wyse, A; Wajner, M | 1 |
| Blom, HJ; de Graaf-Hess, A; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Verkaart, S; Visch, HJ; Willems, PH; Wilmer, MJ | 1 |
| Antignac, C; Chadefaux-Vekemans, B; Goujon, JM; Grünfeld, JP; Morinière, V; Noël, LH; Servais, A | 1 |
| Athaydes, GA; Dornelles, PK; Feksa, LR; Fleck, RM; Rech, VC; Rodrigues-Junior, V; Wannmacher, CM | 1 |
| Borowitz, MJ; Burns, KH; Confer, B; Emadi, A; Streiff, MB | 1 |
| Bradley, K; Schneider, JA; Seegmiller, JE | 1 |
| Heinrichs, C; Kühnel, L | 1 |
| Butler, JD; Spielberg, SP | 2 |
| Segal, S; States, B | 2 |
| Dumoulin, R; Frederich, A; Guibaud, P; Louis, JJ; Zabot, MT | 1 |
| Jonas, AJ; Schneider, JA; Smith, ML | 1 |
| Bashan, N; Bernardini, I; Gahl, WA; Schulman, JD; Tietze, F | 2 |
| Kohn, G; Makov, N; Meidan, B; Narinsky, R; Steinherz, R | 3 |
| Baltassat, P; Bureau, J; Dumoulin, R; Frederich, A; Guibaud, P; Larbre, F; Louis, JJ; Parchoux, B; Zabot, MT | 1 |
| Schulman, JD; Steinherz, R; Tietze, F | 1 |
| Feldhoff, CM; Hagge, WW; Swetschin, H | 1 |
| Harms, E; Oude Elferink, RP; Strijland, A; Tager, JM | 1 |
| Jonas, AJ; Pellett, OL; Schneider, JA; Smith, ML; Thoene, JG | 1 |
| Bashan, N; Gahl, WA; Schulman, JD; Tietze, F | 1 |
| Butler, JD; Zatz, M | 2 |
| Lemons, RM; Thoene, JG | 1 |
| Gahl, WA; Raiford, D; Schulman, JD; Steinherz, R; Tietze, F | 1 |
| Lee, J; Segal, S; States, B | 3 |
| Greene, AA; Jonas, AJ; Schneider, JA; Smith, ML | 1 |
| Chiang, H; Gahl, WA; Modesti, A; Schulman, JD; Steinherz, R; Tietze, F; Triche, TJ | 1 |
| Ajzen, H; Carvalhaes, JT; Mocelin, AJ; Nóbrega, FJ; Ramos, OL | 1 |
| Bergonzi, E; Bühlmann, C; Herren, A; Lavanchy, P; Lüthy, C; Oetliker, O; Wyss, SR | 1 |
| Lancaster, GA; Scriver, CR | 1 |
| Gochman, N; Jonas, AJ; Schneider, JA; Smith, SA | 1 |
| Gahl, WA; Modesti, A; Schulman, JD; Steinherz, R; Tietze, F; Triche, T | 1 |
| Bashan, N; Gahl, WA; Schulman, JD; Steinherz, R; Tietze, F | 1 |
| Witte, AM | 1 |
| Boman, H; Schneider, JA | 1 |
| Jonas, AJ; Neal, P; Oshima, RG; Ritchie, DG; Schneider, JA | 1 |
| Danpure, CJ | 1 |
| Lemons, R; Thoene, JG | 2 |
| Danpure, CJ; Fyfe, DA | 1 |
| Dörner, K; Hake, H; Thiel, HJ; Voigt, GJ; von Denffer, H | 1 |
| Laino, P; Levine, LS; New, MI; Novogroder, M; Oberfield, SE; Wellner, D | 1 |
| Burrow, CR; Fivush, BA; Hartz, PA; Racusen, LC; Wilson, PD | 1 |
| Avner, ED; Benson, LL; Foreman, JW; Nissim, I; Sweeney, W; Wellons, M | 1 |
| Jean, G; Mencia-Huerta, JM; Niaudet, P; Pintos-Morell, G; Salem, P | 1 |
| Bernardini, I; Brushart, TA; Charnas, LR; Cwik, VA; Dalakas, M; Fraker, D; Gahl, WA; Gilliatt, RW; Ishak, K; Luciano, CA | 1 |
| Butler, JD; Pentchev, PG; Vanier, MT | 1 |
| Aoyagi, K; Nakano, H; Yamakura, Y | 1 |
| Bernardini, I; Gahl, WA; Hyman, PE; Ingelfinger, J; Mohan, P; Tangerman, A | 1 |
| Ohno, K; Yano, T | 1 |
| Antignac, C; Broyer, M; Fuchshuber, A; Gribouval, O; Jean, G; Niaudet, P; Schneider, JA; Town, MM; van't Hoff, W | 1 |
| Ballantyne, AO; Scarvie, KM; Trauner, DA | 1 |
| Gretz, N; van't Hoff, WG | 1 |
| Bianchetti, MG; Kernland, K; Lüthy, CM; Wermuth, B | 1 |
| Barker, P; Chung, CJ; Fordham, LA; O'Connell, T; Specter, B | 1 |
| Eto, Y | 1 |
| Gahl, WA; Iwata, F; Kaiser-Kupfer, MI; Kuehl, EM; McCain, LM; Reed, GF | 1 |
| Blom, H; de Graaf-Hess, A; Trijbels, F | 1 |
| Busuttil, DP; Liu Yin, JA | 1 |
| Blom, HJ; Heil, SG; Levtchenko, E; Monnens, LA; Trijbels, FJ; Van der Put, NM | 1 |
| Antignac, C; Cherqui, S; Gasnier, B; Kalatzis, V | 1 |
| Butler, JD; Pellefigue, F; Schulman, JD; Spielberg, SP; Tietze, F | 1 |
| Pollard, AC; Roy, LP | 1 |
| Kong, CM | 1 |
| Scotto, JM; Stralin, HG | 1 |
| Böhm, N; Gospos, C; Riede, UN; Ullrich, K | 1 |
| Oshima, RG; Pellett, OL; Robb, JA; Schneider, JA | 1 |
| Braum, R; Darai, G; Flügel, RM; Harms, E; Munk, K | 1 |
| Kaye, CI; Nadler, HL | 2 |
| Oshima, RG; Ritchie, DG; Schneider, JA; Thoene, JG | 1 |
| Schneider, JA; Schulman, JD | 2 |
| Ettenger, RB; Fine, RH; Kogut, MD; Malekzadeh, MH; Neustein, HB; Pennisi, AJ; Schneider, JA; Uittenbogaart, CH | 1 |
| Bloustein, PA; Goodman, SI; Hambidge, KM; Schröter, GP; Weil, R; West, JC | 1 |
| Godfrey, AD; Kroll, WA; Mendoza, SA; Orloff, S; Schlesselman, JJ; Schneider, JA; Schulman, JD; Thoene, JG | 1 |
| Segal, S | 1 |
| Butler, JD; Tietze, F | 1 |
| Harms, E; Knöpfle, G; Weber, HP | 1 |
| Dodd, MJ; Green, WR; Pusin, SM | 1 |
| Allard, D; Castets, JC; Huang, Y; Kamoun, P; Parvy, P | 1 |
| Libert, J; Toussaint, D; Verougstraete, C | 1 |
| Crawhall, JC; Oshima, RG; Schneider, JA | 1 |
| Delvin, E; Depape-Brigger, D; Goldman, H; Mamer, O; Scriver, CR | 1 |
| Koldovsky, O; Palmieri, M; Scardigli, K; Segal, S; States, B | 1 |
| Harris, D; Segal, S; States, B | 2 |
| Oshima, RG; Rhead, WJ; Schneider, JA; Thoene, JG | 1 |
| Crawhall, JC; Olson, DL; Oshima, RG; Schneider, JA; Thoene, JG | 1 |
| Ebbesen, F; Holck, F; Mygind, KI | 1 |
| Corbeel, L; Hauglustaine, D; Michielsen, P; Serrus, M; van Damme, B | 1 |
| Rhead, WJ; Schneider, JA | 1 |
| Schulman, JD | 2 |
| Patrick, AD; Willcox, P | 2 |
| Blazer, B; Harris, D; Segal, S; States, B | 1 |
| Burnstine, RA; Nicely, A; Potter, JL | 1 |
| Antoci, B; Gherlinzoni, G | 1 |
| Aricheta, R; Baum, M; Sakarcan, A | 1 |
| Kamoshita, S; Watanabe, H | 1 |
| Aoki, T; Higashino, H; Nakajima, M; Okami, T | 1 |
| Bernardini, I; Charnas, L; Dalakas, MC; Gahl, WA; Ishak, KG; Markello, TC | 1 |
| Ayadi, A; Besbes, A; Hammami, M; Pousse, H; Sfar, MT; Slimane, MN | 1 |
| Gräf, M; Grote, A; Wagner, F | 1 |
| Lemons, RM; Paelicke, KM; Pisoni, RL; Thoene, JG | 1 |
| Cole, BR; Cottel, J; Kissane, JM; Marcusson, E; Merrill, S; Nelson, RD; Schnaper, HW; Shackelford, GD; Smith, ML; So, SK | 1 |
| Baker, T; Chantler, C; Dalton, RN; Duke, LC; Haycock, GB; Smith, SP; van't Hoff, WG | 1 |
| Broyer, M; Ged, C; Jean, G; Kamoun, P; Tete, MJ | 1 |
| Bradbury, JA; Brocklebank, T; Danjoux, JP; Spencer, M; Voller, J | 1 |
| Baum, M; Coor, C; Marver, D; Quigley, R; Salmon, RF | 1 |
| Andersson, H; Fivush, BA; Gahl, WA; Racusen, LC | 1 |
| Almond, PS; Chavers, B; Matas, A; Morel, P; Najarian, JS; Troppmann, C | 1 |
| Coulthard, M; Fleetwood, A; Richardson, J | 1 |
| Berger, R; Bijsterveld, K; Chapman, TE; Reijngoud, DJ; Schierbeek, H; van Luijk, WH | 1 |
| Cornford, ME; Malekzadeh, MH; Schneider, JA; Shields, WD; Vinters, HV; Vogel, DG | 1 |
| Benson, L; Foreman, JW | 1 |
| Baum, M; Salmon, RF | 1 |
| Broyer, M; Tete, MJ | 1 |
| Forster, S; Lloyd, JB; Scarlett, L | 3 |
| Butler, JD | 1 |
| Gloster, E; Goldstein, M; Rozenbaum, JA; Trachtman, H | 1 |
| Katz, B; Melles, RB; Schneider, JA | 1 |
| Hall, NA; Young, EP | 1 |
| Broyer, M; Gubler, MC; Habib, R; Spear, GS | 2 |
| Foreman, JW | 1 |
| Adamson, MD; Andersson, HC; Gahl, WA | 1 |
| Christensen, HN; Greene, AA; Pisoni, RL; Schneider, JA; Smith, ML | 1 |
| Chen, YJ; Clark, KF; Davis, SE; Greene, AA; Marcusson, EG; Schneider, JA; Smith, ML | 1 |
| Lemons, RM; Lisowski, KM; Pisoni, RL; Thoene, JG | 1 |
| Forster, S; Lloyd, JB | 1 |
| Butler, JD; Gahl, WA; Tietze, F | 1 |
| Minckler, DS; Rao, NA; Wan, WL | 1 |
| Adamson, M; Barranger, J; Cohen, W; Gahl, WA; Kaiser-Kupfer, I; Ludwig, IH; O'Connell, HJ | 1 |
| Gahl, WA; Kaiser-Kupfer, MI; Kuwabara, T; O'Regan, S; Schneider, JA; Thoene, JG | 1 |
| Charnas, L; Chen, KT; Chesney, RW; Dalakas, MC; Davis, SL; Fink, J; Gahl, WA; Hutchison, HT; Kuwabara, T; Pezeshkpour, GH | 1 |
| Narisawa, K | 1 |
| Gahl, WA; Kuwabara, T; Reiss, RE; Smith, ML | 1 |
| Clark, KF; Gahl, WA; Schneider, JA; Smolin, LA; Thoene, JG | 1 |
| Kohn, G; Makov, N; Rachmel, A; Steinherz, R | 1 |
| Chesney, R; Gahl, WA; Schneider, JA; Thoene, JG | 1 |
| Corden, BJ; Denman, DW; Gahl, WA; Jonas, AJ; Reed, GF; Rizzo, WB; Schlesselman, JJ; Schneider, JA; Schulman, JD; Thoene, JG | 1 |
| Kearney, L; Mossman, J; Patrick, AD; Rodeck, CH; Warren, R; Young, EP | 1 |
| Chan, CC; Datiles, MB; Gahl, WA; Kaiser-Kupfer, MI; Rodrigues, M | 1 |
| Bernardini, I; Gahl, WA; Harper, GS; Hurko, O; Zuurveld, J | 1 |
| Bowring, MA; Foreman, JW; Lee, J; Segal, S; States, B | 1 |
| Katz, B; Melles, RB; Rao, NA; Schneider, JA | 1 |
| Christensen, HN; Lemons, RM; Pisoni, RL; Thoene, JG | 1 |
| Lloyd, JB | 1 |
| Butler, JD; Gahl, WA; Harper, GS; Rome, LH; Tietze, F | 1 |
| Gahl, WA; Tietze, F | 1 |
| Danpure, CJ; Fyfe, DA; Jennings, PR | 1 |
| Borysko, K; Boskovich, S; Lemons, R; Thoene, JG | 1 |
| Akao, T; Fukase, M; Kobashi, K; Koeda, T; Koizumi, F; Matumoto, M; Wakaki, K | 1 |
| Butler, JD; Gahl, WA; Schulman, JD; Tietze, F | 1 |
| Butler, JD; Gahl, WA; Thoene, JG; Wittwer, CT; Zatz, M | 1 |
| Blumberg, A; da Silva, VA; Lavanchy, P; Lüthy, CM; Oetliker, OH; Suter, H; Wyss, SR; Zurbrügg, RP | 1 |
| Bump, EA; Greene, AA; Harms, E; Jonas, AJ; Miller, AL; Pellett, OL; Schneider, JA; Smith, ML | 1 |
| Gasset, AR; Hood, CI; Zimmerman, TJ | 1 |
| Aaron, K; Goldman, H; Pinsky, L; Scriver, CR | 1 |
| Olson, WH; Schulman, JD; Seegmiller, JE; Wong, V | 1 |
| Furlong, CE; Oshima, RG; Schneider, JA; Willis, RC | 1 |
| Schulman, JD; Slusser, RJ; Spear, GS; Taylor, CG; Tousimis, AJ | 1 |
| Genova, R | 1 |
| Kroll, WA; Schneider, JA | 1 |
| Becker, FL; Francke, U; Hammond, DS; Pellett, OL; Schneider, JA | 1 |
| Kroll, W; Lichte, KH | 1 |
| Spear, GS | 2 |
| Kroll, W; Schneider, JA | 1 |
| Fetterman, GH; Hickman, RO; Mahoney, CP; Marchioro, TL; Schneider, JA; Striker, GE | 1 |
| Linneweh, F; Wenske, G | 1 |
| Kroll, W; Lichte, KH; Lutz, P; Maurer, R | 1 |
| Spear, G | 1 |
| Bickel, H; Lutz, P; Schmidt, H | 1 |
| Becker, FL; Garvin, AJ; Horger, EO; Jacobson, C; Kroll, WA; Pellett, OL; Schneider, JA; Spear, GS; Verroust, FM; Wong, VG | 1 |
| Schmickel, RD; Waterson, JR; Winter, WP | 1 |
| Bradley, K; Schneider, JA; Seegmiller, JE; Wong, V | 1 |
| Bradley, KH; Schulman, JD | 2 |
| Hickman, RO; Mahoney, CP; Manning, GB; Marchioro, TL; Striker, GE | 1 |
| Cotlier, E | 1 |
| Kraus, E; Lutz, P | 2 |
| Bradley, KH; Schneider, JA; Schulman, JD; Seegmiller, JE | 3 |
| Dyszy-Laube, B; Kamińska, D; Kanabus, I; Korniszewski, L; Trzebiński, A | 1 |
| Coppieters, R; Evens, L; François, J; Hanssens, M | 2 |
| Bradley, KH; Schulman, JD; Tietze, F | 1 |
| Feist, D; Lutz, HP; Schmidt, H | 1 |
| Aaron, K; Canlas, Z; Delvin, E; Goldman, H; Scriver, CR | 1 |
| Meerbach, W; Rüdiger, D; Wöckel, W | 1 |
| Christensen, MF; Henriksen, O; Nielsen, JA | 1 |
| Bradley, KH; Schulman, JD; Seegmiller, JE | 1 |
| Cullmann, B; Toussaint, W | 1 |
| Mildeová, E | 1 |
| Bradley, KH; Schulman, JD; Seegmiller, JE; Wong, VG | 1 |
| Brubaker, R; Kuwabara, T; Olson, W; Schulman, J; Seegmiller, JE; Wong, VG | 1 |
| Bradley, KH; Kuwabara, T; Schulman, JD; Seegmiller, JE; Wong, VG | 1 |
| Schulman, JD; Seegmiller, JE; Wong, VG | 1 |
| Brubaker, RF; Kuwabara, T; Schulman, JD; Seegmiller, JE; Wong, VG | 1 |
| Bradley, KH; Fujimoto, WY; Schulman, JD; Seegmiller, JE | 1 |
| Antener, I | 1 |
| Furukawa, T; Linneweh, F | 1 |
| Barthelmai, W | 1 |
| Rausch-Schott, G; Wilk, F | 1 |
| Bradley, KH; Schneider, JA; Seegmiller, JE | 2 |
| Crawhall, JC; Lietman, PS; Schneider, JA; Seegmiller, JE | 1 |
| Frazier, PD; Wong, VG | 1 |
| Nolan, SP; Schneider, JA; Seegmiller, JE | 1 |
| Lake, BD; Patrick, AD | 1 |
| Schneider, JA; Seegmiller, JE; Wong, V | 1 |
| Gjessing, LR; Seip, M; Vellan, EJ | 1 |
| Genel, M; Holtzapple, PG; Hummeler, K; Segal, S; Yakovac, WC | 1 |
| Casey, TP | 1 |
| Antener, I; Bauer, B | 1 |
32 review(s) available for cystine and Cystinosis
| Article | Year |
|---|---|
Central Nervous System Complications in Cystinosis: The Role of Neuroimaging.
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.
Topics: Biomarkers; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Quality of Life | 2022 |
Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis.
Topics: Cornea; Cystine; Cystinosis; Humans; Mutation | 2023 |
Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.
Topics: Cornea; Cystine; Cystinosis; Humans; Retina | 2023 |
Nephropathic cystinosis: an update on genetic conditioning.
Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Mutation | 2021 |
[Cystinosis : Diagnosis, cystine-depleting therapy, and transition].
Topics: Adult; Child; Child, Preschool; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Humans; Kidney; Lysosomes; Male; Quality of Life | 2018 |
Cystinosis: a review.
Topics: Amino Acid Transport Systems, Neutral; Child; Cystine; Cystinosis; Humans | 2016 |
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
Topics: Crystallization; Cystine; Cystinosis; Fanconi Syndrome; Forecasting; Humans; Oxidative Stress | 2017 |
Current medical aspects of pantethine.
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.
Topics: Animals; Biological Transport, Active; Cystine; Cystinosis; Humans; Kidney; Lysosomes; Proteinuria | 2010 |
Cystinosis.
Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Mutation | 2002 |
Cystinosis: from gene to disease.
Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Mutation | 2002 |
[Cystinosis: from cystine crystals to the cystinosin].
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].
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].
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.
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)].
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].
Topics: Cystine; Cystinosis; Humans; Lysosomal Storage Diseases; Sialic Acids | 1998 |
[Cystinosis from childhood to adulthood].
Topics: Adult; Child; Chromosomes, Human, Pair 17; Cystine; Cystinosis; Humans; Lysosomes | 2000 |
Cystinosis: a review.
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.
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.
Topics: Animals; Birds; Cystine; Cystinosis; Dimercaprol; Homocystine; Humans; Hydrogen Sulfide; Kidney Transplantation; Lysosomes; Mammals; Methionine; Organoids; Penicillamine; S-Adenosylmethionine; Thiosulfates; Transplantation, Homologous | 1975 |
Cystinosis.
Topics: Cysteamine; Cystine; Cystinosis; Humans; Kidney | 1989 |
Cystinosis.
Topics: Adult; Child; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney | 1989 |
Cystine exodus from lysosomes: cystinosis.
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.
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.
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.
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.
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.
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.
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.
Topics: Child, Preschool; Cystine; Cystinosis; Epithelium; Female; Humans; Kidney; Kidney Tubules, Proximal | 1974 |
9 trial(s) available for cystine and Cystinosis
| Article | Year |
|---|---|
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Administration, Oral; Child; Child, Preschool; Clinical Trials as Topic; Cysteamine; Cystine; Cystinosis; Growth; Humans; Kidney Diseases; Kidney Glomerulus; Kidney Tubules | 1987 |
392 other study(ies) available for cystine and Cystinosis
| Article | Year |
|---|---|
Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.
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.
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.
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.
Topics: Adult; Cross-Sectional Studies; Cysteamine; Cystine; Cystinosis; Humans; Neuromuscular Diseases | 2022 |
Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype.
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.
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.
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.
Topics: Cysteine; Cystine; Cystinosis; Cystinuria; Disulfides; Humans | 2022 |
Cystinosis and two rare mutations in CTNS gene: two case reports.
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.
Topics: Amino Acid Transport Systems, Neutral; Cystine; Cystinosis; Humans; Lipid Bilayers; Mutation; Tunisia | 2022 |
Ocular treatment of cystinosis with eye drop containing cysteamine
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.
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.
Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Infant; Infant, Newborn; Kidney | 2022 |
Structural basis for proton coupled cystine transport by cystinosin.
Topics: Amino Acid Transport Systems, Neutral; Biological Transport; Cystine; Cystinosis; Humans; Lysosomes; Protons | 2022 |
Nephropathic cystinosis in Poland: a 40-year retrospective study.
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.
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.
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.
Topics: Cysteamine; Cystine; Cystinosis; Drug Monitoring; Humans | 2022 |
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.
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.
Topics: Cornea; Corneal Topography; Cystine; Cystinosis; Densitometry; Humans; Treatment Outcome | 2023 |
Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis.
Topics: Amino Acid Transport Systems, Neutral; Biomarkers; Creatinine; Cystine; Cystinosis; Glutathione; Humans | 2023 |
Cystinosis.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Patient Compliance; Renal Dialysis; Renal Insufficiency; United Kingdom | 2023 |
Central nervous system complications in adult cystinosis patients.
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.
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.
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.
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.
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.
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.
Topics: Child; Cysteamine; Cystine; Cystinosis; Humans; Infant; Kidney; Muscles | 2020 |
MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
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.
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.
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.
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.
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.
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.
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.
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.
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!
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.
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.
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.
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.
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.
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?
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.
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.
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.
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].
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.
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.
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.
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.
Topics: Adult; Biopsy; Cystine; Cystinosis; Face; Humans; Male; Skin Diseases; Time Factors | 2016 |
IMAGES IN CLINICAL MEDICINE. Cystine Crystals in Bone Marrow.
Topics: Bone Marrow; Crystallization; Cystine; Cystinosis; Fatal Outcome; Female; Humans; Infant | 2015 |
Cystine crystals in bone marrow aspirate.
Topics: Adult; Bone Marrow; Crystallization; Cystine; Cystinosis; Humans; Male | 2015 |
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Adult; Cystine; Cystinosis; Dentigerous Cyst; Fanconi Syndrome; Humans; Male; Mandibular Diseases; Renal Insufficiency | 2008 |
Clinicopathological features of ocular cystinosis.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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].
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Cystine; Cystinosis; Eye; Eye Diseases; Head; Humans | 1952 |
A clinico-pathological study of cystinosis in two siblings.
Topics: Cystine; Cystinosis; Humans; Siblings | 1952 |
[Cystinuria, cystinic lithiasis, cystinosis; two recent observations].
Topics: Cystine; Cystinosis; Cystinuria; Humans; Lithiasis | 1952 |
Observations on therapy of cystine calculus disease.
Topics: Calculi; Cystine; Cystinosis; Cystinuria; Humans; Nephrolithiasis | 1952 |
Cystinosis with crystal deposits in the cornea and conjunctiva; report of a case.
Topics: Conjunctiva; Conjunctival Diseases; Cornea; Corneal Diseases; Cystine; Cystinosis; Disease; Humans | 1952 |
[Paper chromatographic investigations of urine and plasma in cystinosis (child M.L)].
Topics: Body Fluids; Child; Cystine; Cystinosis; Humans; Plasma | 1952 |
Infantile cystinosis with cystine crystals in cornea and conjunctiva.
Topics: Conjunctiva; Cornea; Cystine; Cystinosis; Eye; Humans; Metabolic Diseases | 1952 |
Cystinosis; report of two cases with postmortem examination.
Topics: Autopsy; Cystine; Cystinosis; Humans | 1953 |
[Roentgenographic studies in cystine storage disease].
Topics: Cystine; Cystinosis; Humans; Research | 1953 |
[Cystinosis].
Topics: Cystine; Cystinosis; Humans | 1953 |
[Problem of kidney function disorders in cystinosis].
Topics: Cystine; Cystinosis; Humans; Kidney | 1953 |
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Cystinosis; Dwarfism; Fanconi Syndrome; Metabolic Diseases; Urine | 1953 |
[On cystinosis].
Topics: Cystine; Cystinosis; Humans | 1954 |
[Additional observations on the problem of cystinosis].
Topics: Cystine; Cystinosis; Humans | 1954 |
[Cystinosis with aminoaciduria and nanism].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Fluids; Cystine; Cystinosis; Dwarfism; Metabolic Diseases | 1954 |
[Cystinosis - considerations].
Topics: Cystine; Cystinosis; Humans | 1954 |
[Cystinosis].
Topics: Cystine; Cystinosis; Disease; Humans; Mononuclear Phagocyte System | 1954 |
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ataxia; Calculi; Cystine; Cystinosis; Muscle Spasticity; Psychomotor Disorders; Urinary Tract; Urine | 1954 |
Cystinosis.
Topics: Cystine; Cystinosis | 1954 |
[Two cases of cystinosis with gluco-phosphate-amino renal diabetes].
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].
Topics: Cystine; Cystinosis; Fanconi Syndrome; Humans; Metabolic Diseases | 1954 |
[Contribution to the knowledge of cystinosis].
Topics: Cystine; Cystinosis; Humans | 1954 |
[Diagnostic significance of slit lamp studies of the cornea and conjunctiva in infantile cystinosis].
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.
Topics: Child; Cystine; Cystinosis; Dwarfism; Humans; Infant; Metabolic Diseases | 1955 |
[A case of acute cystinosis].
Topics: Cystine; Cystinosis; Metabolic Diseases | 1955 |
Ocular manifestations of systemic cystinosis.
Topics: Conjunctiva; Cornea; Cystine; Cystinosis; Dwarfism; Eye; Humans; Metabolic Diseases | 1956 |
[The importance of ocular findings in the diagnosis of cystinosis].
Topics: Cystine; Cystinosis; Humans | 1955 |
[Cystinosis without aminoaciduria in a girl nine years of age].
Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Female; Humans; Urologic Diseases | 1955 |
[A new case of cystinosis (Lignac's disease)].
Topics: Cystine; Cystinosis; Dwarfism; Metabolic Diseases | 1955 |
[Cystinuria, cystinosis and De Toni-Debré-Fanconi disease].
Topics: Cystine; Cystinosis; Cystinuria; Diagnosis, Differential; Dwarfism; Humans; Metabolic Diseases | 1956 |
[Development of a case of cystinosis].
Topics: Cystine; Cystinosis; Humans | 1956 |
[Cystinuria, cystinosis, and De Toni-Debré-Fanconi disease].
Topics: Cystine; Cystinosis; Cystinuria; Dwarfism; Fanconi Syndrome; Metabolic Diseases | 1956 |
[Course of a case of cystinosis].
Topics: Cystine; Cystinosis; Humans; Skin Diseases | 1956 |
[Pre-renal stage of cystinosis].
Topics: Cystine; Cystinosis; Dwarfism; Humans; Kidney | 1956 |
[Cystinosis in infancy; clinical observations].
Topics: Cystine; Cystinosis; Dwarfism; Metabolic Diseases | 1956 |
Amino-aciduria with cystinosis: case report with determination of urinary amino acids and ocular cystine.
Topics: Amino Acids; Cystine; Cystinosis; Eye; Humans | 1957 |
Cystinosis in an adult.
Topics: Adult; Cystine; Cystinosis; Humans; Medical Records; Metabolic Diseases | 1957 |
Amino-aciduria in childhood: cystinuria or cystinosis?; a case report.
Topics: Amino Acids; Child; Cystine; Cystinosis; Cystinuria; Dwarfism; Humans; Infant; Medical Records; Metabolic Diseases | 1957 |
Clinical conference; cystinosis.
Topics: Cystine; Cystinosis; Dwarfism; Medical Records; Metabolic Diseases | 1957 |
The management of cystinuria and cystine-stone disease.
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].
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].
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].
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].
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].
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.
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.
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.
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].
Topics: Amino Acids; Cystine; Cystinosis | 1964 |
[Ophthalmological contributions to the diagnosis of dwarfism: cystinosis of the cornea].
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.
Topics: Cystine; Cystinosis; Humans; Leukocytes | 1960 |
The degradative metabolism of L-cysteine and L-cystine in vitro by liver in cystinosis.
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.
Topics: Cystine; Cystinosis; Humans; Liver; Lymph Nodes; Spleen | 1951 |
[On chronic aminoaciduria; comparative studies of cystinuria and cystinosis].
Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Cystinuria; Humans; Urologic Diseases | 1951 |
The de Toni-Fanconi syndrome with cystinosis.
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].
Topics: Cystine; Cystinosis; Eye; Head; Humans; Muscles | 1951 |
[Cystinuria, cystinic lithiasis and cystinosis; two recent observations].
Topics: Cystine; Cystinosis; Cystinuria; Humans; Lithiasis | 1952 |
Cystine storage disease with amino-aciduria.
Topics: Amino Acids; Antifibrinolytic Agents; Cystine; Cystinosis; Humans | 1952 |
Cystinosis.
Topics: Cystine; Cystinosis; Humans | 1952 |
An anatomic study of a case of cystinosis.
Topics: Cystine; Cystinosis; Humans | 1952 |
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
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.
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].
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.
Topics: Cysteamine; Cystine; Cystinosis; Humans; Neutrophils | 2004 |
[Cystinosis: deposition of cystine crystals in the bone marrow of a 27-year-old man].
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.
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.
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.
Topics: Adolescent; Child; Cysteamine; Cystine; Cystinosis; Drug Administration Schedule; Humans; Patient Compliance | 2004 |
Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
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.
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.
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].
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.
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.
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.
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.
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.
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.
Topics: Cells, Cultured; Cystine; Cystinosis; Fibroblasts; Genetic Carrier Screening; Humans; Microscopy, Phase-Contrast; Skin; Subcellular Fractions | 1967 |
Understanding intestinal cysteamine bitartrate absorption.
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.
Topics: Age Factors; Animals; Creatine Kinase; Cystine; Cystinosis; Kidney; Rats; Rats, Wistar; Sulfhydryl Compounds | 2006 |
Cystine inhibits creatine kinase activity in pig retina.
Topics: Animals; Cell Fractionation; Creatine Kinase; Cystine; Cystinosis; Male; Retina; Sus scrofa | 2007 |
Nephropathic cystinosis with bone marrow involvement.
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.
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.
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?
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.
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.
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.
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.
Topics: Acid Phosphatase; Cell Nucleus; Cysteine; Cystine; Cystinosis; Cytoplasmic Granules; Ethylmaleimide; Humans; Leukocytes; Molecular Biology | 1967 |
[Clinical course study in thrombophilia].
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.
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.
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.
Topics: Cystine; Cystinosis; Dipeptides; Dose-Response Relationship, Drug; Fibroblasts; gamma-Glutamyltransferase; Glutathione; Glutathione Disulfide; Humans; Time Factors | 1982 |
[Treatment of cystinosis with cysteamine].
Topics: Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; In Vitro Techniques; Infant; Male | 1983 |
ATP-dependent lysosomal cystine efflux is defective in cystinosis.
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.
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.
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.
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].
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.
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.
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.
Topics: Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Hydrogen-Ion Concentration; Lysosomes | 1983 |
Renal cell culture using autopsy material from children with cystinosis.
Topics: Autopsy; Cells, Cultured; Child, Preschool; Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Kidney; Male; Pantetheine | 1984 |
Lysosomal cystine counter-transport in heterozygotes for cystinosis.
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.
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.
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.
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.
Topics: Cell Line; Cycloheximide; Cysteamine; Cystine; Cystinosis; Fibroblasts; Humans; Isotope Labeling; Sulfur Radioisotopes | 1983 |
Effect of chloroquine on handling of cystine by cystinotic fibroblasts.
Topics: Amino Acids; Child; Chloroquine; Cystine; Cystinosis; Fibroblasts; Humans | 1983 |
Pantethine depletes cystinotic fibroblasts of cystine.
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.
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.
Topics: Cystine; Cystinosis; Humans; In Vitro Techniques; Leukocytes; Lysosomes; Neutrophils; Time Factors | 1982 |
[Renal transplantation in cystinosis. Report of a case].
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.
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.
Topics: Culture Media; Cystine; Cystinosis; Dithiothreitol; Fibroblasts; Humans | 1982 |
Measurement of intracellular amino acids in cultured fibroblasts.
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.
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.
Topics: Cysteine; Cystine; Cystinosis; Ethylmaleimide; Half-Life; Heterozygote; Humans; Leukocytes; Lysosomes | 1982 |
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.
Topics: Biological Transport; Carrier Proteins; Cysteine; Cystine; Cystinosis; Ethylmaleimide; Humans; Kinetics; Leukocytes; Lysosomes | 1982 |
Two cases of cystinosis.
Topics: Adolescent; Bone Marrow; Child; Cystine; Cystinosis; Female; Humans; Male | 1982 |
Uptake of cystine by cystine-depleted fibroblasts from patients with cystinosis.
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.
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.
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.
Topics: Aminoquinolines; Cell Line; Chloroquine; Cystine; Cystinosis; Fibroblasts; Humans; Skin; Sulfur Radioisotopes | 1981 |
Cystine depletion of cystinotic tissues by phosphocysteamine (WR638).
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.
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.
Topics: Biological Transport; Chloroquine; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes; Skin | 1980 |
[Nephropathic and benign cystinosis (author's transl)].
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.
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.
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.
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.
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].
Topics: Adult; Chromatography, High Pressure Liquid; Chronic Disease; Conjunctiva; Crystallization; Cystine; Cystinosis; Female; Glomerulonephritis; Humans | 1993 |
Intravenous cysteamine therapy for nephropathic cystinosis.
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.
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.
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.
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.
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.
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.
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.
Topics: Bone Marrow Cells; Cystine; Cystinosis; Graft Rejection; Humans; Infant; Kidney Transplantation; Macrophages; Male | 2000 |
The molecular basis of Dutch infantile nephropathic cystinosis.
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.
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.
Topics: Animals; Culture Techniques; Cysteamine; Cystine; Cystinosis; Fibroblasts; Hydrogen-Ion Concentration; Liposomes; Mice; Phosphatidylcholines | 1978 |
Cysteamine therapy for cystinosis.
Topics: Administration, Oral; Child, Preschool; Cysteamine; Cystine; Cystinosis; Female; Follow-Up Studies; Humans; Infant; Leukocytes; Male | 1978 |
Cystinosis: A review.
Topics: Crystallization; Cysteine; Cystine; Cystinosis; Humans; Kidney Transplantation; Transplantation, Homologous; Uremia | 1975 |
Ultrastructure of the liver in a case of childhood cystinosis.
Topics: Child; Cystine; Cystinosis; Cytoplasm; Extracellular Space; Female; Humans; Kupffer Cells; Liver; Microscopy, Electron | 1977 |
[Cystinosis (author's transl)].
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.
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.
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.
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.
Topics: Biodegradation, Environmental; Cells, Cultured; Chloroquine; Cystine; Cystinosis; Fibroblasts; Glutathione; Humans; Proteins; Time Factors | 1977 |
Cadaver renal transplantation in children with cystinosis.
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.
Topics: Adolescent; Child; Cystine; Cystinosis; Female; Graft Rejection; Humans; Kidney; Kidney Transplantation; Male; Thyroid Gland; Time Factors; Transplantation, Homologous | 1977 |
Cystinosis and its therapy.
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.
Topics: Cell Line; Cystine; Cystinosis; Fibroblasts; Humans; Lysosomes; Mucolipidoses; Skin | 1979 |
[Adolescent cystinosis. Review of the literature and case report (author's transl)].
Topics: Adolescent; Age Factors; Bone Marrow; Cornea; Creatinine; Cystine; Cystinosis; Fibroblasts; Humans; Kidney Failure, Chronic; Male | 1979 |
Adult cystinosis. A case report.
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.
Topics: Biopsy; Cystine; Cystinosis; Humans; Leukocytes; Muscles | 1978 |
[Cystinosis in adolescence - clinical and histopathological study].
Topics: Adolescent; Conjunctiva; Conjunctivitis; Cystine; Cystinosis; Female; Humans; Vision Disorders | 1978 |
Factors controlling the nonprotein cystine content of cystinotic fibroblasts.
Topics: Cells, Cultured; Cystine; Cystinosis; Dithiothreitol; Fibroblasts; Leukocytes | 1977 |
The in vivo use of dithiothreitol in cystinosis.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Amino Acids; Cystine; Cystinosis; Fibroblasts; Humans; Reference Values; Selenium; Skin | 1976 |
Biochemical diagnosis of cystinosis using leukocytes.
Topics: Autoradiography; Chromatography, Thin Layer; Cysteine; Cystine; Cystinosis; Glutathione; Humans; Leukocytes; Sulfur Radioisotopes | 1975 |
Prenatal diagnosis of cystinosis.
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.
Topics: Biopsy; Child; Chromatography, Paper; Conjunctiva; Cystine; Cystinosis; Female; Humans | 1975 |
Cystinosis of bone.
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.
Topics: Animals; Cystine; Cystinosis; Glycine; In Vitro Techniques; Kidney Tubules, Proximal; Models, Biological; Ouabain; Oxygen Consumption; Rabbits; Sodium-Potassium-Exchanging ATPase | 1992 |
[Cystinosis].
Topics: Administration, Oral; Cysteamine; Cystine; Cystinosis; Eye; Genes, Recessive; Humans; Kidney; Kidney Transplantation; Lysosomes | 1992 |
[Ocular manifestations in a case of infantile cystinosis].
Topics: Crystallization; Cystine; Cystinosis; Eye; Eye Diseases; Humans; Infant; Male | 1992 |
Parenchymal organ cystine depletion with long-term cysteamine therapy.
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].
Topics: Child, Preschool; Cysteamine; Cystine; Cystinosis; Humans; Leukocytes; Male; Ophthalmoscopy; Radiography | 1992 |
[Cysteamine eyedrops for treatment of corneal cysteine deposits in infantile cystinosis].
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.
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.
Topics: Clone Cells; Cystine; Cystinosis; Female; Fibroblasts; Humans; Infant; Kidney; Kidney Failure, Chronic | 1992 |
Effects of oral phosphocysteamine and rectal cysteamine in cystinosis.
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].
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.
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.
Topics: Cells, Cultured; Cystine; Cystinosis; Epithelium; Fanconi Syndrome; Humans; Kidney Tubules; Urine | 1991 |
Progression of infantile cystinosis after renal transplantation.
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.
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.
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.
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.
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.
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].
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.
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.
Topics: Ascorbic Acid; Cells, Cultured; Cysteamine; Cystine; Cystinosis; Fibroblasts; Glutathione; Homocysteine; Humans | 1990 |
Hearing loss and adenoidal hypertrophy in an adolescent with nephropathic cystinosis.
Topics: Adenoids; Adolescent; Crystallization; Cystine; Cystinosis; Hearing Loss; Hearing Loss, Bilateral; Humans; Hypertrophy; Male | 1989 |
Crystal deposition following keratoplasty in nephropathic cystinosis.
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.
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.
Topics: Adolescent; Adult; Biopsy; Child; Crystallography; Cystine; Cystinosis; Glomerular Mesangium; Humans; Kidney Transplantation | 1989 |
Dark cells of cystinosis: occurrence in renal allografts.
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?
Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Humans; Lysosomes | 1989 |
Diagnosis of cystinosis with use of placenta.
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.
Topics: Cells, Cultured; Cystine; Cystinosis; Fibroblasts; Gluconates; Humans; Lysosomes | 1989 |
The effects of decreased growth temperature on the cystine content of cystinotic fibroblasts.
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.
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.
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.
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.
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.
Topics: Adult; Cystine; Cystinosis; Humans; Male; Muscles; Muscular Diseases | 1988 |
[Cystinosis and Salla disease].
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.
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.
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.
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.
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.
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.
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.
Topics: Child; Conjunctivitis; Cornea; Cystine; Cystinosis; Histocytochemistry; Humans; Immunochemistry; Iris; Leukocytes; Male | 1987 |
Cystine storage in cultured myotubes from patients with nephropathic cystinosis.
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.
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.
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.
Topics: Cells, Cultured; Cystathionine; Cystine; Cystinosis; Fibroblasts; Humans; Kinetics; Methionine; Skin; Temperature | 1986 |
Disulphide reduction in lysosomes. The role of cysteine.
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.
Topics: Cells, Cultured; Cystine; Cystinosis; Cytoplasmic Granules; Fibroblasts; Humans; Lysosomes; Mucolipidoses; Subcellular Fractions | 1986 |
Lysosomal cystine transport in cystinosis variants and their parents.
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.
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.
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.
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.
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.
Topics: Cystamine; Cysteamine; Cystine; Cystinosis; Cytoplasmic Granules; Disulfides; Ethylmaleimide; Half-Life; Humans; Leukocytes | 1985 |
Metabolism of pantethine in cystinosis.
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.
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.
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.
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.
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.
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.
Topics: Cell Membrane; Cell Nucleus; Child; Cystine; Cystinosis; Cytoplasmic Granules; Humans; Inclusion Bodies | 1971 |
[On a case of cystine thesaurismosis].
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.
Topics: Ascorbic Acid; Cells, Cultured; Cystine; Cystinosis; Dithiothreitol | 1974 |
Cystinosis.
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.
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].
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.
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.
Topics: Cells, Cultured; Child; Cystine; Cystinosis; Fibroblasts; Genetic Counseling; Heterozygote; Homozygote; Humans; Molecular Biology; Proteins | 1973 |
The proximal tubule and the podocyte in cystinosis.
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.
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].
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.
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.
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.
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.
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.
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.
Topics: Biological Transport; Culture Techniques; Cysteine; Cystine; Cystinosis; Cytoplasm; Fibroblasts; Humans; Lysosomes; Microscopy, Phase-Contrast; Penicillamine; Sulfides | 1970 |
Renal transplantation for childhood cystinosis.
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.
Topics: Adult; Cholesterol; Chondroitin; Cystine; Cystinosis; Eye Diseases; Humans; Lipid Metabolism; Metabolic Diseases | 1972 |
Ocular cystine deposits in an adult.
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.
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].
Topics: Age Factors; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Female; Humans; Infant; Male | 1972 |
Cystinosis. A clinical and histopathologic study.
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.
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].
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.
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)].
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.
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)].
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.
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.
Topics: Centrifugation, Density Gradient; Cysteine; Cystine; Cystinosis; Humans; Leukocytes; Lysosomes; Sucrose; Sulfur Isotopes | 1969 |
[Ocular changes in cystinosis].
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].
Topics: Blood Protein Disorders; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Female; Humans; Kidney Diseases | 1969 |
A simple technique for the biochemical diagnosis of cystinosis.
Topics: Biopsy; Conjunctiva; Cystine; Cystinosis; Humans; Methods; Specimen Handling | 1970 |
Intralysosomal cystine crystals in cystinosis.
Topics: Acid Phosphatase; Biopsy; Conjunctiva; Cystine; Cystinosis; Histocytochemistry; Humans; Lysosomes; Microscopy, Electron | 1970 |
Intracellular cystine content of leukocyte populations in cystinosis.
Topics: Cell Nucleus; Cystine; Cystinosis; Humans; Kidney Diseases; Leukocytes; Lymphocytes; Microscopy, Electron; Polymorphism, Genetic | 1970 |
Conjunctival biopsy for the biochemical diagnosis of cystinosis.
Topics: Biopsy; Chromatography; Conjunctiva; Cystine; Cystinosis; Humans | 1970 |
Benign cystinosis. The clinical, biochemical and morphologic findings in a family with two affected siblings.
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.
Topics: Cystine; Cystinosis | 1970 |
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.
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].
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].
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?].
Topics: Child; Chromatography; Cystine; Cystinosis; Diet Therapy; Humans; Leukocyte Count; Leukocytes; Microscopy, Electron; Proteins | 1970 |
Ocular cystine deposits in an adult.
Topics: Chromatography; Chromatography, Thin Layer; Conjunctiva; Cornea; Cystine; Cystinosis; Electroretinography; Eye Diseases; Humans; Male; Middle Aged; Pedigree; Surgery, Plastic | 1971 |
[Cystinosis].
Topics: Anabolic Agents; Child; Cystine; Cystinosis; Diet, Sodium-Restricted; Humans; Male; Methionine | 1971 |
Cystinosis: therapeutic implications of in vitro studies of cultured fibroblasts.
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.
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.
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.
Topics: Adult; Child; Choroid; Conjunctiva; Cornea; Cystine; Cystinosis; Humans; Iris; Sclera; X-Ray Diffraction | 1968 |
Appendicitis in a child with cystinosis.
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.
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.
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.
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.
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.
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.
Topics: Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Infant | 1966 |
[An effective dietetic and medicinal treatment of cystinosis].
Topics: Amino Acids; Child, Preschool; Cystine; Cystinosis; Diet Therapy; Humans; Kidney Function Tests; Male; Methenolone; Penicillamine; Pyruvates; Vitamin D | 1966 |