Results 81 to 90 of about 3,344 (169)

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives. [PDF]

Kidney Int Rep
Golestaneh L, Ames EG, Doyle MH, Ghossein C, Grimm PC, Hewlett JL, Lim A, Marzinelli LS, Schmidt KJ, Smeryage B, Zaritsky JJ, Kaskel FJ.   +11 more
europepmc   +1 more source

Cystinosis.

Progress in clinical and biological research, 1976
This paper about cystinosis is focused primarily on nosology and genetic heterogeneity, the recurrent themes of these conferences. It briefly discusses cystinosis in relation to other disorders which cause the renal Fanconi syndrome with or without glomerular insufficiency, points out the methods for its reliable diagnosis, and then summarizes evidence
openaire   +2 more sources

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

Int J Mol Sci
Bellomo F, De Rasmo D.
europepmc   +1 more source

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 [PDF]

, 2020
openaire   +1 more source

Genetic Screening of Patients With Inherited Fanconi Syndrome. [PDF]

Kidney Int Rep
Inoki Y, Sakakibara N, Yamamoto A, Kimura Y, Aoyama S, Kondo A, Hanafusa H, Horinouchi T, Yamamura T, Nagano C, Ishimori S, Asato S, Fukuda A, Hashimoto S, Murase T, Nagatani K, Nakaya I, Okamoto T, Takayanagi S, Tanaka H, Tsugawa K, Tsukamoto T, Yamada T, Yamamoto M, Nozu K.   +24 more
europepmc   +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

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

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

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