Results 81 to 90 of about 1,003 (165)

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine. [PDF]

Hum Mol Genet, 2023
De Leo E, Taranta A, Raso R, Polishchuk E, D'Oria V, Pezzullo M, Goffredo BM, Cairoli S, Bellomo F, Battafarano G, Camassei FD, Del Fattore A, Polishchuk R, Emma F, Rega LR.   +14 more
europepmc   +1 more source

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants. [PDF]

Pediatr Nephrol, 2023
Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M.   +18 more
europepmc   +1 more source

Nephropathic Cystinosis [PDF]

, 2020
openaire   +1 more source

The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study. [PDF]

Pediatr Nephrol, 2023
Bjerre A, Aase SA, Radtke M, Siva C, Gudmundsdottir H, Forsberg B, Woldseth B, Brackman D.   +7 more
europepmc   +1 more source

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge. [PDF]

CEN Case Rep, 2022
Deepthi B, Krishnamurthy S, Karunakar P, Barathidasan G, Rajavelu TN.   +4 more
europepmc   +1 more source

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study. [PDF]

Front Med (Lausanne), 2022
O'Connell N, Oh J, Arbeiter K, Büscher A, Haffner D, Kaufeld J, Kurschat C, Mache C, Müller D, Patzer L, Weber LT, Tönshoff B, Weitz M, Hohenfellner K, Pape L.   +14 more
europepmc   +1 more source

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. [PDF]

Cells, 2021
Taranta A, Elmonem MA, Bellomo F, De Leo E, Boenzi S, Janssen MJ, Jamalpoor A, Cairoli S, Pastore A, De Stefanis C, Colucci M, Rega LR, Giovannoni I, Francalanci P, van den Heuvel LP, Dionisi-Vici C, Goffredo BM, Masereeuw R, Levtchenko E, Emma F.   +19 more
europepmc   +1 more source

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis. [PDF]

Hum Mol Genet, 2022
Krohn P, Rega LR, Harvent M, Festa BP, Taranta A, Luciani A, Dewulf J, Cremonesi A, Camassei FD, Hanson JVM, Gerth-Kahlert C, Emma F, Berquez M, Devuyst O.   +13 more
europepmc   +1 more source

Neuroretinal structure changes in infantile nephropathic cystinosis. [PDF]

Orphanet J Rare Dis
Keidel LF, Jurkute N, Schworm B, Hohenfellner K, Priglinger S, Petzold A, Priglinger C.   +6 more
europepmc   +1 more source

Testicular function in males with infantile nephropathic cystinosis. [PDF]

Hum Reprod, 2021
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K.   +7 more
europepmc   +1 more source