Results 111 to 120 of about 1,000 (164)

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

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

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

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis. [PDF]

Hum Vaccin Immunother, 2020
Bozan G, Kilic O, Çetin N, Kılıç Yıldırım G, Ulukapi HB, Iseri Nepesov M, Kavaz Tufan A, Dinleyici EC.   +7 more
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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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

Swallowing Dysfunction in Nephropathic Cystinosis

New England Journal of Medicine, 1990
Nephropathic cystinosis causes renal failure in most patients at approximately 10 years of age. This can be prevented or retarded by cystine-depleting therapy with oral cysteamine. Many patients who do not receive adequate cysteamine therapy undergo renal transplantation, but the accumulation of cystine continues in other organs, resulting in various ...
Barbara C Sonies, Hans C Andersson, Stephen G Kaler   +2 more
exaly   +3 more sources

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 A Gahl
exaly   +3 more sources

Intestinal Mucosa in Nephropathic Cystinosis

Journal of Pediatric Gastroenterology and Nutrition, 1987
SummaryThe major manifestations of nephropathic cystinosis are renal tubular acidosis, vitamin D‐resistant rickets, and dwarfism. Cystine crystals are deposited in a variety of cells, mainly phagocytic, including macro‐phages of the intestinal lamina propria.
T C, Iancu, A, Lerner, H, Shiloh
openaire   +2 more sources