Results 151 to 160 of about 1,953 (203)

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.

J Am Soc Nephrol
Bellomo F, Pugliese S, Cairoli S, Krohn P, De Stefanis C, Raso R, Rega LR, Rega LR, Taranta A, De Leo E, Ciolfi A, Cicolani N, Petrini S, Luciani A, Goffredo BM, Porzio O, Devuyst O, Dionisi-Vici C, Emma F.   +18 more
europepmc   +1 more source

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis [PDF]

Bussolati, Benedetta, Tassinari, Sarah
core   +1 more source

Hierarchical processing of visual stimuli in nephropathic cystinosis. [PDF]

J Inherit Metab Dis, 2019
Sathappan A, Trauner D.
europepmc   +1 more source

Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.

J Am Soc Nephrol, 2020
Veys KRP, Elmonem MA, Van Dyck M, Janssen MC, Cornelissen EAM, Hohenfellner K, Prencipe G, van den Heuvel LP, Levtchenko E.   +8 more
europepmc   +1 more source

Cystinosis: 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 more
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Update on nephropathic cystinosis

Pediatric Nephrology, 1990
The cystine that accumulates within cystinotic lysosomes comes primarily from proteins which have been degraded within this organelle. The individual amino acids have specific transport mechanisms to exit the lysosome. The lysosomal cystine transporter is defective in all types of cystinosis.
J A, Schneider, B, Katz, R B, Melles
openaire   +2 more sources

Medullary nephrocalcinosis in nephropathic cystinosis

Pediatric Nephrology, 1995
Children with nephropathic cystinosis excrete large amounts of calcium and phosphate due to renal tubular Fanconi syndrome, and also receive substantial supplements of phosphate and alkalinizing agents. Since these constitute risk factors for nephrocalcinosis, we evaluated 41 children age 2 months to 15 years with nephropathic cystinosis and good renal
D S, Theodoropoulos, T H, Shawker, C, Heinrichs, W A, Gahl   +3 more
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Swallowing Dysfunction in Nephropathic Cystinosis

New England Journal of Medicine, 1990
Nephropathic cystinosis causes renal failure in most patients at approximately 10 years of age. This can be prevented or retarded by cystine-depleting therapy with oral cysteamine. Many patients who do not receive adequate cysteamine therapy undergo renal transplantation, but the accumulation of cystine continues in other organs, resulting in various ...
B C, Sonies, E F, Ekman, H C, Andersson, M D, Adamson, S G, Kaler, T C, Markello, W A, Gahl   +6 more
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Corneal Sensitivity in Nephropathic Cystinosis

American Journal of Ophthalmology, 1987
We measured corneal sensitivity in 14 patients with infantile nephropathic cystinosis and in 13 age-matched controls. All patients with cystinosis had the pathognomonic anterior segment findings of crystal deposition within conjunctiva and cornea.
B, Katz, R B, Melles, J A, Schneider
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Distal myopathy in nephropathic cystinosis

Pediatric Nephrology, 2000
In long-standing nephropathic cystinosis complications are observed in various organs. Distal myopathy was first described in detail in 1994. The prevalence was calculated to be 24%. We studied seven patients with nephropathic cystinosis with neurophysiological techniques. Only two patients complained of a distal muscle weakness but all showed signs of
U, Vester, M, Schubert, G, Offner, J, Brodehl   +3 more
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