Results 111 to 120 of about 5,039 (197)

Lysosome-derived methylated arginine is a signalling metabolite controlling the lipidome. [PDF]

Nat Cell Biol
Nguyen ST, Watson RL, Gao F, Campos M, Jung S, Seabrook LJ, Kim MC, Hanse EA, Yang Y, Kong M, Zuckerman JE, Pereira RC, Salusky IB, Catz SD, Jang C, Skowronska-Krawczyk D, Albrecht LV.   +16 more
europepmc   +1 more source

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

Cureus
Wald M.
europepmc   +1 more source

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 treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation

, 2006
Cystmosis is a rare metabolic disorder characterized by lysosomal cystine accumulation leading to multi-organ damage, with kidneys being clinically first affected .
van Son, W. J., Edens, M. A., Levtchenko, E. N., Blijham, T., de Greef, M. H. G., Wijkstra, P. J.   +5 more
core  

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

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

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