Results 131 to 140 of about 1,953 (203)

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis. [PDF]

Orphanet J Rare Dis, 2021
van Stein C, Klank S, Grüneberg M, Ottolenghi C, Grebe J, Reunert J, Harms E, Marquardt T.   +7 more
europepmc   +1 more source

Serum N-glycosylation is altered in Nephropathic Cystinosis. [PDF]

Glycobiology
Cislaru A, Saldova R, Heggenstaller A, Nigrovic PA, Harlin E, Greville G, De Andrade Moral R, Bojar D, Awan A, O'Flaherty R.   +9 more
europepmc   +1 more source

Long-term outcomes in nephropathic cystinosis: a review. [PDF]

Pediatr Nephrol
Chang HE, Hossain MS, Song C, Surampudi N, Nesterova G, Gahl WA.   +5 more
europepmc   +1 more source

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation. [PDF]

Cells, 2021
Quinaux T, Bertholet-Thomas A, Servais A, Boyer O, Vrillon I, Hogan J, Lemoine S, Gaillard S, Alioli C, Vasseur S, Acquaviva C, Peyruchaud O, Machuca-Gayet I, Bacchetta J.   +13 more
europepmc   +1 more source

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

Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult. [PDF]

Kidney Int Rep
Jarnes JR, Palmer RS, Whitley CB.
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

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