Results 101 to 110 of about 1,003 (165)

Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis. [PDF]

Int J Mol Sci, 2021
Bellomo F, De Leo E, Taranta A, Giaquinto L, Di Giovamberardino G, Montefusco S, Rega LR, Pastore A, Medina DL, Di Bernardo D, De Matteis MA, Emma F.   +11 more
europepmc   +1 more source

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis. [PDF]

Br J Ophthalmol, 2023
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C.   +5 more
europepmc   +1 more source

Transitioning Care in Nephropathic Cystinosis: Overcoming Challenges in Young Adults. [PDF]

Kidney Int Rep
Ghossein C, Nishi L.
europepmc   +1 more source

Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report. [PDF]

Case Rep Nephrol Dial, 2021
Alsultan MK, Bdeir ZN, Hassan Q, Ali T.
europepmc   +1 more source

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. [PDF]

Turk J Ophthalmol
Üzüm S, Bozkurt Oflaz A, Guluzade S, Tınkır Kayıtmazbatır E, Bozkurt B.   +4 more
europepmc   +1 more source

Metabolic Advantage of 25(OH)D₃ versus 1,25(OH)₂D₃ Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting. [PDF]

Cells, 2022
Zhou P, Cheung WW, Gonzalez A, Vaddi V, Oliveira EA, Mak RH.   +5 more
europepmc   +1 more source

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

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

Juvenile nephropathic cystinosis [PDF]

, 2020
openaire   +1 more source

Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives. [PDF]

Pediatr Nephrol
Joseph MW, Stein DR, Stein AC.
europepmc   +1 more source

Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis. [PDF]

J Bone Miner Res
Bechtold-Dalla Pozza S, Lemster S, Herzig N, Vill K, Dubinski I, Hohenfellner K, Interdisciplinary Cystinosis Clinic.   +6 more
europepmc   +1 more source