Results 141 to 150 of about 7,413 (226)

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India. [PDF]

Child Kidney Dis
K P L, Rahman RK, Remesh P, Anand M, Jayadevan N, Pachat D.   +5 more
europepmc   +1 more source

Successful Surgical Sperm Extraction in a Patient With Cystinosis. [PDF]

Cureus
Wald M.
europepmc   +1 more source

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia. [PDF]

BMC Genom Data
Sahli C, Mabrouk S, Jemmeli N, Nouir S, Ltaifa R, Messaoud T, Abdennebi HB, Ferchichi S, Ghorbel M, Laradi S, Chkioua L.   +10 more
europepmc   +1 more source

Cystinosin regulates Na⁺/H⁺ exchanger 3 trafficking and function in kidney proximal tubular cells. [PDF]

EMBO Rep
Khare V, Farré JC, Ait Kbaich M, Rocca CJ, Tang C, Ma X, Biederman K, Mathur I, Badell-Grau RA, Sivakumar A, Chen R, Catz SD, Cherqui S.   +12 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

Cystinosis Is Associated with Deficits in Muscle Mass, Strength, and Hip Bone Density in Children and Young Adults. [PDF]

Kidney360
Sheldon CR, Grimm PC, Long J, Whalen JR, Kent K, Reimer RJ, Strickland A, Phelps M, Leonard MB.   +8 more
europepmc   +1 more source

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

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]

ACS Pharmacol Transl Sci
Carneiro A, Jones DH.
europepmc   +1 more source

Cystinosis [PDF]

, 2020
openaire   +3 more sources

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