Results 111 to 120 of about 1,003 (165)

Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective. [PDF]

Pediatr Nephrol
Regnier M, Flammier S, Boutaba M, Ndongo AA, Servais A, Schaefer F, Levtchenko E, Bacchetta J, Bertholet-Thomas A.   +8 more
europepmc   +1 more source

Nephropathic infantile cystinosis [PDF]

, 2020
openaire   +1 more source

Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice. [PDF]

Clin Kidney J
Ariceta G, Santos F, López Muñiz A, Hermida A, Matoses ML, Ventura A, Martin-Moreno PL, González E, Acuña L, Giner E, Vara J.   +10 more
europepmc   +1 more source

Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis. [PDF]

J Am Soc Nephrol, 2020
Veys KRP, Elmonem MA, Van Dyck M, Janssen MC, Cornelissen EAM, Hohenfellner K, Prencipe G, van den Heuvel LP, Levtchenko E.   +8 more
europepmc   +1 more source

Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years. [PDF]

Pediatr Nephrol
Brügelmann M, Müller S, Bohlen AV, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Kanzelmeyer N, Oh J, Billing H, Gellermann J, Müller D, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Žebec MS, Haffner D, Zivicnjak M.   +19 more
europepmc   +1 more source

Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis. [PDF]

Saudi J Ophthalmol, 2020
Al Abdulsalam O.
europepmc   +1 more source

Hierarchical processing of visual stimuli in nephropathic cystinosis. [PDF]

J Inherit Metab Dis, 2019
Sathappan A, Trauner D.
europepmc   +1 more source

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Pharmacological treatment of nephropathic cystinosis with cysteamine

Expert Opinion on Pharmacotherapy, 2004
Cystinosis, clinically recognised since 1903, is an autosomal recessive lysosomal storage disease caused by mutations in CTNS. This gene codes for a lysosomal cystine transporter, whose absence leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood and ...
Robert Kleta, William Gahl
exaly   +3 more sources

Cysteamine Therapy for Children with Nephropathic Cystinosis

New England Journal of Medicine, 1987
We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day) for up to 73 months. This agent is known to be effective in depleting cells of cystine. In our study, the mean cystine depletion from leukocytes was 82 percent.
George Reed, William Gahl, William Rizzo   +2 more
exaly   +3 more sources

Update on nephropathic cystinosis

Pediatric Nephrology, 1990
The cystine that accumulates within cystinotic lysosomes comes primarily from proteins which have been degraded within this organelle. The individual amino acids have specific transport mechanisms to exit the lysosome. The lysosomal cystine transporter is defective in all types of cystinosis.
J A, Schneider, B, Katz, R B, Melles
openaire   +2 more sources