Results 121 to 130 of about 5,039 (197)

A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models. [PDF]

Int J Mol Sci
De Leo E, Cairoli S, Rega LR, Colucci M, Taranta A, Goffredo BM, Emma F, Bellomo F.   +7 more
europepmc   +1 more source

Small populations, big impact: leveraging rare disease gene therapies to benefit millions. [PDF]

J Clin Invest
Cherqui S.
europepmc   +1 more source

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

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

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]

J Cachexia Sarcopenia Muscle
Medaer L, Mora R, Zhou Z, Giarratana N, Yedigaryan L, La Rovere R, Levtchenko E, Mouly V, Verhoeyen E, Eeltink S, Treumann A, Vervliet T, Sampaolesi M, Gijsbers R.   +13 more
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

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

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

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

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report. [PDF]

Cureus
Bousellam B, Eddaoui HA, Regragui A, Benchekroun N, Belmekki M.   +4 more
europepmc   +1 more source