Results 111 to 120 of about 1,950 (208)

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Successful Management of a Neglected Case of Nephropathic Cystinosis

Sultan Qaboos University Medical Journal, 2014
Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-
Mohamed A. El-Naggari, Ibtisam Elnour, Hussein Al-Kindy, Aamir Al-Shahrabally, Anas A. Abdelmogheth   +4 more
doaj   +2 more sources

Fertility 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 more
core   +2 more sources

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

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

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

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

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