Results 101 to 110 of about 4,878 (206)

Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients. [PDF]

Sci Rep
Rezaei K, Shahraki K, Chen L, Yassin SH, Lee OL, Shahraki K, Suh DW.   +6 more
europepmc   +1 more source

Cystinosis: a review [PDF]

, 2016
Mohamed A. Elmonem, Koenraad Veys, Neveen A. Soliman, Maria Van Dyck, Lambertus P. van den Heuvel, Elena Levtchenko   +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

From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis. [PDF]

Int J Mol Sci
Liang H, Baudouin C, Dupas B, Delcroix T, Giordano V.   +4 more
europepmc   +1 more source

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

, 2013
Stéphanie Cherqui
openalex   +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

Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine

, 2020
Simone Linden, Sabrina Klank, Erik Harms, Marianne Grüneberg, Julien H. Park, Thorsten Marquardt   +5 more
openalex   +1 more source

Skeletal Consequences of Nephropathic Cystinosis [PDF]

, 2018
Pablo Florenzano, Carlos R. Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella, Luis F de Castro, Sydney M Brown, Adom Whitaker, Renata C. Pereira, Dorothy Bulas, Rachel I. Gafni, Isidro B. Salusky, William A. Gahl, Michael T. Collins   +13 more
openalex   +1 more source

Cystinosis [PDF]

, 2020
openaire   +3 more sources

Table 1_Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model.xlsx

M. N. Rossi (22100030), A. Ciolfi (6081194), V. Matteo (22100033), L. Pedace (22100036), C. Nardini (22100039), E. Loricchio (22100042), I. Caiello (22100045), F. Bellomo (22100048), A. Taranta (22100051), E. De Leo (22100054), M. Tartaglia (6081212), F. Emma (7678619), F. De Benedetti (17238340), E. Miele (22100078), G. Prencipe (22100081)   +14 more
openalex   +1 more source