Results 101 to 110 of about 5,039 (197)

Nephropathic Cystinosis Mimicking Bartter Syndrome A Novel Mutation

, 2018
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene.
Korkmaz, Emine, ÖZALTIN, FATİH, Yel, Sibel, Nalcacioglu, Hulya, Bastug, Funda   +4 more
core  

Can cystinosis cause coronary artery dilatation?

, 2006
In children, dilated coronary arteries are usually caused by Kawasaki's disease.
Ertugrul, T, Dindar, A, Olgar, S, Omeroglu, RE, Nisli, K   +4 more
core   +1 more source

Infantile Cystinosis

Archives of Pathology & Laboratory Medicine, 2005
Dinesh, Rakheja, Dennis C, Wooten, Ana M, Gomez   +2 more
openaire   +2 more sources

A patient with cystinosis presenting transient features of Bartter syndrome

The Turkish Journal of Pediatrics, 2006
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz, Sultan Durmuş-Aydoğdu, Nurdan Kural, Kismet Bildirici, Hikmet Başmak, Coşkun Yarar   +5 more
doaj  

Urinary YKL-40 as a diagnostic biomarker for cystinosis. [PDF]

JCI Insight
Greenberg JH, Souza SD, Thiessen Philbrook HR, Obeid W, Rosenberg AZ, Levtchenko E, Veys K, Furth SL, Parikh CR.   +8 more
europepmc   +1 more source

Unlocking Growth: Muscle-Bone Interactions in Cystinosis. [PDF]

Kidney360
Salcedo-Giraldo J, Gulati A.
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

From Cysteamine to Pepstatin A: Targeting Cathepsin D To Improve Bone Health in Cystinosis. [PDF]

Int J Biol Sci
Battafarano G, Rossi M, Pagliarosi O, Di Giuseppe L, Di Gregorio J, Terreri S, De Stefanis C, Pezzullo M, Di Giovamberardino G, Vernocchi P, Marzano V, Putignani L, D'Amico J, Piemonte F, Taranta A, Emma F, Del Fattore A.   +16 more
europepmc   +1 more source

Sulfate handling in proximal renal tubular defects: an exploratory study. [PDF]

Pediatr Nephrol
Bakker ED, Wamelink M, Smith DEC, Levtchenko EN, Bökenkamp A.   +4 more
europepmc   +1 more source

Growth retardation in children with cystinosis

, 2010
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation of cystine in all tissues due to mutations in the CTNS gene (17p13.3).
Besouw, M, Levtchenko, E
core