Results 111 to 120 of about 4,878 (206)

Lysosomal Cystine Transport in Cystinosis Variants and their Parents [PDF]

, 1987
William A. Gahl, Frank Tietze
openalex   +1 more source

Cystadrops^® Eye Drops for the Management of Ocular Cystinosis in Patients Aged 6 Months to < 2 Years. [PDF]

Ophthalmol Ther
Biswas S, Casteels I, Bremond-Gignac D, Hogan J, Iarossi G.   +4 more
europepmc   +1 more source

SP702A PRAGMATIC TRIAL OF DELAYED-RELEASE CYSTEAMINE BITARTRATE IN CHILDREN LESS THAN 6 YEARS OLD WITH CYSTINOSIS [PDF]

, 2016
Craig B. Langman, Larry A. Greenbaum, Paul C. Grimm, Ewa Elenberg, Georges Deschênes, Patrick Niaudet, Denis Morin, Gregg Checani   +7 more
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

Cystinosis (Lignac-Fanconi disease).

, 2003
Christos D. Gatzimos, Dale M. Schulz, Raymond L. Newnum   +2 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

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

PQ-loop Protein Study : Identification of a New Lysosomal Transporter Involved in Cystinosis Treatment and Bioinformatic Analysis of its Proteic Family

, 2014
Adrien Jézégou
openalex   +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

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