Results 151 to 160 of about 5,436 (204)

Intravenous Cysteamine Therapy for Nephropathic Cystinosis [PDF]

, 1995
William A. Gahl, Julie R. Ingelfinger, Parvathi Mohan, Isa Bernardini, Paul E. Hyman, Albert Tangerman   +5 more
openalex   +1 more source

Testicular function in males with infantile nephropathic cystinosis. [PDF]

Hum Reprod, 2021
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K.   +7 more
europepmc   +1 more source

Author response: Novel Mechanism for Tubular Injury in Nephropathic Cystinosis

Swastika Sur, Maggie Kerwin, Sílvia Pineda, Poonam Sansanwal, Tara K. Sigdel, Marina Sirota, Minnie Sarwal   +6 more
openalex   +1 more source

Steady‐state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients [PDF]

, 2003
Eric B. Belldina, Mei Y. Huang, Jerry A. Schneider, Richard C. Brundage, Timothy S. Tracy   +4 more
openalex   +1 more source

Neuroretinal structure changes in infantile nephropathic cystinosis. [PDF]

Orphanet J Rare Dis
Keidel LF, Jurkute N, Schworm B, Hohenfellner K, Priglinger S, Petzold A, Priglinger C.   +6 more
europepmc   +1 more source

Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression [PDF]

, 2019
Virginie Janssens, Héloïse P. Gaide Chevronnay, Sandrine Marie, Marie‐Françoise Vincent, Patrick Van Deŕ Smissen, Nathalie Névo, Seppo Vainio, Rikke Nielsen, Erik I. Christensen, François Jouret, Corinne Antignac, Christophe E. Pierreux, Pierre J. Courtoy   +12 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

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

Photic sneeze reflex in nephropathic cystinosis. [PDF]

, 1990
Barrett Katz, Ronald B. Melles, Michael R. Swenson, Jerry A. Schneider   +3 more
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