Results 131 to 140 of about 6,860 (229)

Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome.

, 2002
Cystinosis is an inborn error of lysosomal cystine transporter, resulting in cystine accumulation in lysosomes of all cells. Renal Fanconi syndrome is an early sign of kidney involvement in cystinosis patients.
Monnens, L.A.H., Blom, H.J., Levtchenko, E.N., Graaf-Hess, A.C. de   +3 more
core  

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

Hematopoietic Stem-Cell Gene Therapy for Cystinosis. [PDF]

N Engl J Med
Barshop BA, Ball ED, Benador N, Trauner D, Phillips S, Dohil R, Afshari NA, Roy S, Campo Fernandes B, Kohn D, Shayan K, Everett JK, Bushman FD, Midgley J, Liang H, Sawyers A, Gangoiti JA, Panchal M, Ahmed I, Cherqui S.   +19 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

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