Results 141 to 150 of about 6,358 (193)

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis. [PDF]

BMC Genom Data
Adda Neggaz L, Dahmani AC, Derriche I, Adda Neggaz N, Boudjema A.   +4 more
europepmc   +1 more source

Cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers [PDF]

, 2012
Stephen Niemiec, Angela O. Ballantyne, Doris A. Trauner   +2 more
openalex   +1 more source

Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.

Trends in Molecular Medicine, 2021
A. Jamalpoor, Amr Othman, E. Levtchenko, R. Masereeuw, M. Janssen   +4 more
semanticscholar   +1 more source

An extended-release form of cysteamine bitartrate for cystinosis [PDF]

, 2012
Susan J. Allison
openalex   +1 more source

Theranostic Contact Lens for Ocular Cystinosis Utilizing Gold Nanoparticles. [PDF]

Biosensors (Basel)
Ha E, Kang H, Noh H.
europepmc   +1 more source

Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis [PDF]

, 2013
Jennifer L. Johnson, Gennaro Napolitano, Jlenia Monfregola, Céline J. Rocca, Stéphanie Cherqui, Sergio Catz   +5 more
openalex   +1 more source

Is genetic rescue of cystinosis an achievable treatment goal? [PDF]

, 2013
Stéphanie Cherqui
openalex   +1 more source

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis [PDF]

, 2014
Mohamed A. Elmonem, Samuel Makar, Lambertus P. van den Heuvel, Hanan Abdelaziz, Safaa Abdelrahman, Xavier Bossuyt, Mirian C. H. Janssen, Marlies Cornelissen, Dirk J. Lefeber, Leo A. B. Joosten, Marwa M. Nabhan, Fanny Oliveira Arcolino, Ahmed S. Hassan, Héloïse P. Gaide Chevronnay, Neveen A. Soliman, Elena Levtchenko   +15 more
openalex   +1 more source

Ocular Involvement in Infantile Cystinosis: A Case Report. [PDF]

Cureus
Razzak A, Ait Ammar H, Bouazza M, Elbelhadji M.   +3 more
europepmc   +1 more source

Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation

, 2006
Masako Ueda, Kevin O’Brien, Douglas R. Rosing, Alexander Ling, Robert Kleta, Dorothea McAreavey, Isa Bernardini, William A. Gahl   +7 more
openalex   +1 more source