Results 111 to 120 of about 1,953 (203)

Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom. [PDF]

BMC Nephrol, 2023
Lashilola S, Xu W, Azimpour K, McCarthy M, Carlot S, Game D, van der Voort J.   +6 more
europepmc   +1 more source

OR6-005 – Cystine crystals activate inflammasomes [PDF]

, 2013
F De Benedetti, F Emma, G Prencipe, I Caiello, L Laudiero, S Petrini   +5 more
core   +1 more source

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond

Experimental and Molecular Pathology
Cystinosis is a autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a cystine transporter.
Angelo Santoro, Yuri Vincenzo Ferrara, Alfonso De Angelis   +2 more
doaj   +1 more source

Genetic Landscape of Nephropathic Cystinosis in Russian Children. [PDF]

Front Genet, 2022
Savostyanov KV, Pushkov AA, Shchagina OA, Maltseva VV, Suleymanov EA, Zhanin IS, Mazanova NN, Fisenko AP, Mishakova PS, Polyakov AV, Balanovska EV, Zinchenko RA, Tsygin AN.   +12 more
europepmc   +1 more source

Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys. [PDF]

Kidney Int Rep, 2022
Chan L, Wichart J, Kiang T, Khurana R, Gangoiti JA, Barshop BA, Midgley J.   +6 more
europepmc   +1 more source

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

Evaluation of topical cysteamine therapy in the CTNS−/− knockout mouse using in vivo confocal microscopy [PDF]

, 2011
PurposeThe purpose of this study was to assess the ability of quantitative in vivo confocal microscopy (CM) to detect changes in cystine crystal volume in the cystinosisn (Ctns−/−)mouse cornea following topical cysteamine therapy.MethodsFifteen Ctns ...
Flynn, Kevin J., Jester, James V., Nien, Chyong Jy, Simpson, Jennifer L.   +3 more
core   +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

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