Results 151 to 160 of about 7,764 (252)

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads [PDF]

Francesco Bellomo, Domenico De Rasmo
openalex   +1 more source

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model. [PDF]

Front Cell Dev Biol
Rossi MN, Ciolfi A, Matteo V, Pedace L, Nardini C, Loricchio E, Caiello I, Bellomo F, Taranta A, De Leo E, Tartaglia M, Emma F, De Benedetti F, Miele E, Prencipe G.   +14 more
europepmc   +1 more source

Impaired Activity of the γ-Glutamyl Cycle in Nephropathic Cystinosis Fibroblasts [PDF]

, 2006
L. Mannucci, Anna Pastore, Cristiano Rizzo, Fiorella Piemonte, Gianfranco Rizzoni, Francesco Emma   +5 more
openalex   +1 more source

Phenotypic variability in cystinosis: Lessons from an atypical case

Diego Toso, Mónica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torrá   +5 more
openalex   +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

Cystinosis (Lignac-Fanconi disease).

, 2003
Christos D. Gatzimos, Dale M. Schulz, Raymond L. Newnum   +2 more
openalex   +1 more source

The Use of a Viscous Cysteamine Eyedrop in a Belgian Cohort: Early 3-Year Results. [PDF]

Ophthalmol Ther
Matthys E, Delbeke H, Van Keer K, Casteels I.   +3 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

Perspectives: Mental health challenges and medical trauma: focus on cystinosis patients and caregivers. [PDF]

Front Pediatr
Doyle MH, Meschke C.
europepmc   +1 more source

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old:  A case report. [PDF]

Med Int (Lond)
Choudhary DS, Shaheen J, Kala R, Dhakad A, Kalal BS.   +4 more
europepmc   +1 more source