Results 91 to 100 of about 1,000 (164)

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

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA.   +8 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

Novel mechanism for tubular injury in nephropathic cystinosis. [PDF]

Elife
Sur S, Kerwin M, Pineda S, Sansanwal P, Sigdel TK, Sirota M, Sarwal MM.   +6 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