Results 91 to 100 of about 1,618 (169)
Suppository formulations as a potential treatment for nephropathic cystinosis. [PDF]
, 2012 Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all the organs. It is treated by the 6-h oral administration of the aminothiol, cysteamine, which has an offensive taste and Buchan, Barbara, Cairns, Donald, Kay, Graeme, Matthews, Kerr H. +3 morecore +1 more sourceFertility management in cystinosis: A clinical perspective [PDF]
Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.Atherton, Andrea M, Delos Santos, Rowena B, Ghossein, Cybele, Langman, Craig B, Levtchenko, Elena N, Servais, Aude +5 morecore +2 more sources#1443 Bone and mineral metabolism in patients with nephropathic cystinosis as a function of age and eGFR
Nephrology, Dialysis and Transplantation
Cystinosis-associated metabolic bone disease (CMBD) is a major challenge in the treatment of patients with infantile nephropathic cystinosis (NC).Johannes Lahring, M. Leifheit-Nestler, N. Herzig, Jun Oh, Anja K. Büscher, J. Thumfart, Lutz T. Weber, K. Arbeiter, B. Acham-Roschitz, B. Tönshoff, Katharina Hohenfellner, D. Haffner +11 moresemanticscholar +1 more sourceMorphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years
Pediatric nephrology (Berlin, West)Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease (CKD).Malina Brügelmann, Sophia Müller, A. V. Bohlen, Katharina Hohenfellner, Anja K. Büscher, Markus J. Kemper, Kerstin Fröde, N. Kanzelmeyer, Jun Oh, Heiko Billing, J. Gellermann, Dominik Müller, Lutz T. Weber, B. Acham-Roschitz, K. Arbeiter, B. Tönshoff, Martina Hagenberg, M. Žebec, Dieter Haffner, M. Zivicnjak +19 moresemanticscholar +1 more sourceCystinosis: a review [PDF]
A Brodin Sartorius, A Chabli, A Graaf-Hess de, A Jézégou, A Labbé, A Servais, A Taranta, AC Hutchesson, AM Chan, B Betend, B Fivush, B Fivush, B Liu, B Ozkan, B States, BC Sonies, BJ Corden, C Bendavid, C Chiaverini, C Chiavérini, C Cohen, CE Kashtan, CF Dogulu, CI Galarreta, CL Chik, DA Beckman, DA Trauner, DS Theodoropoulos, E Abderhalden, E Bois, E Elenberg, E Ivanova, E Levtchenko, E Levtchenko, EA Ivanova, Elena Levtchenko, EN Levtchenko, ET Tsilou, ET Tsilou, F Ebbesen, F Emma, F Harrison, F Manz, F Oliveira Arcolino, FK Assadi, G Delgado, G Fanconi, G Filler, G Guillet, G Nesterova, G Nesterova, G Nesterova, G Prencipe, GOE Lignac, GS Spear, HP Gaide Chevronnay, HP Gaide Chevronnay, HW Schnaper, J Brodehl, J Jansen, JA Schneider, JG Thoene, JH Ehrich, JK Fink, K Syres, KJ Stralen Van, Koenraad R. Veys, KS Roth, L Winkler, Lambertus P. van den Heuvel, M Baum, M Besouw, M Besouw, M Braekeleer De, M Broyer, M Greco, M Grünebaum, M Hult, M Jackson, M Kiehntopf, MA Elmonem, MA Elmonem, Maria van Dyck, MI Kaiser-Kupfer, MJ Wilmer, MJ Wilmer, MM Wamelink, Mohamed A. Elmonem, MT Besouw, MT Besouw, MT Besouw, MT Besouw, N Gretz, N Nevo, NA Soliman, NA Soliman, Neveen A. Soliman, P Cochat, P Cochat, P Sansanwal, PJ Meikle, R Dohil, R Dohil, R Dohil, R Dohil, R Kleta, R Middleton, RE Reiss, RG Oshima, S Bava, S Cherqui, S O’Regan, SA Kerfoot, SG Heil, SL Nichols, SP Rigden, TC Markello, U Vester, V Shotelersuk, VE Kimonis, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WG Hoff Van’t, WJ Wenner, WS Long, Y Anikster, Y Anikster +132 morecore +1 more sourceExamination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study [PDF]
, 2020 Csidey, Mária, Csorba, Anita, Imre, László, Knézy, Krisztina, Maka, Erika, Maneschg, Otto Alexander, Nagy, Zoltán Zsolt, Resch, Miklós, Szabó, Attila, Szentmáry, Nóra +9 morecore +1 more source
