Results 141 to 150 of about 6,860 (229)

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

Cystinosis I – Generation of Induced Pluripotent Stem Cells From a Patient with Nephropathic Cystinosis

, 2016
Hollywood, Jennifer
core  

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

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

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

Perspectives: Mental health challenges and medical trauma: focus on cystinosis patients and caregivers. [PDF]

Front Pediatr
Doyle MH, Meschke C.
europepmc   +1 more source