Results 51 to 60 of about 6,860 (229)

Fibrosing Colonopathy Presenting in a Patient with Cystinosis

JPGN Reports, 2023
Fibrosing colonopathy is a unique pathology characterized by long segment stricture, usually of the ileocecal region. Historically, it is most commonly described in patients with cystic fibrosis (CF).
Dominic Fiore, Vidhur Sohini, Elizabeth Mileti, N. Fiore   +3 more
semanticscholar   +1 more source

Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children

Iraqi Journal of Pharmaceutical Sciences, 2021
Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation ...
Zainab A. Al-Kinani, Shatha H. Ali
doaj   +1 more source

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

bioRxiv, 2023
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but
A. Francisco, John J. Foxe, Alaina S Berruti, D. J. Horsthuis, S. Molholm   +4 more
semanticscholar   +1 more source

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

Clinical Kidney Journal, 2022
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body.
E. Levtchenko, A. Servais, S. Hulton, G. Ariceta, F. Emma, D. Game, K. Lange, R. Lapatto, Hong Liang, R. Sberro-Soussan, R. Topaloğlu, A. Das, N. Webb, C. Wanner   +13 more
semanticscholar   +1 more source

Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients. [PDF]

Br J Ophthalmol
Aims To analyse the correlation between the physician categories defined by the 3C classification (crystal-complication-compliance) and the ocular manifestations of nephropathic cystinosis. Methods The last visit data of 64 patients aged between 2 and 64
Liang H, Baudouin C, Giordano V.
europepmc   +2 more sources

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study

Journal of Inherited Metabolic Disease, 2022
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs).
Koenraad R P Veys, W. Zadora, K. Hohenfellner, D. Bockenhauer, M. Janssen, P. Niaudet, A. Servais, R. Topaloğlu, M. Besouw, R. Novo, D. Haffner, N. Kanzelmeyer, L. Pape, E. Wühl, E. Harms, A. Awan, P. Sikora, G. Ariceta, B. van den Heuvel, E. Levtchenko   +19 more
semanticscholar   +1 more source

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Kidney International, 2021
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs.
F. Emma, W. Hoff, K. Hohenfellner, R. Topaloğlu, M. Greco, G. Ariceta, C. Bettini, D. Bockenhauer, Koenraad R P Veys, L. Pape, S. Hulton, Suzanne Collin, F. Ozaltın, A. Servais, G. Deschênes, R. Novo, A. Bertholet-Thomas, Jun Oh, E. Cornelissen, M. Janssen, D. Haffner, L. Ravà, C. Antignac, O. Devuyst, P. Niaudet, E. Levtchenko   +25 more
semanticscholar   +1 more source

Beneficial Effects of Starting Oral Cysteamine Treatment in the First 2 Months of Life on Glomerular and Tubular Kidney Function in Infantile Nephropathic Cystinosis

Molecular Genetics and Metabolism, 2022
Nephropathic cystinosis is a rare lysosomal storage disease whose basic defect, impaired transport of cystine out of lysosomes, results in intracellular cystine storage.
K. Hohenfellner, Christina Nießl, D. Haffner, JungJin Oh, C. Okorn, K. Palm, K. Schlingmann, S. Wygoda, W. Gahl   +8 more
semanticscholar   +1 more source

Pulmonary dysfunction in children with Cystinosis: single center study, original article

Egyptian Pediatric Association Gazette, 2022
Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed, Radwa Mohamed Abdel Halim, Mona Mohsen El Attar, Neveen A. Soliman, Hanan Mohsen Osman   +4 more
doaj   +1 more source

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.

Molecular Genetics and Metabolism, 2022
Infantile nephropathic cystinosis, due to impaired transport of cystine out of lysosomes, occurs with an incidence of 1 in 100-200,000 live births.
Christina Nießl, A. Boulesteix, Jun Oh, K. Palm, Peter Schlingmann, S. Wygoda, D. Haffner, E. Wühl, B. Tönshoff, A. Buescher, H. Billing, B. Hoppe, M. Zirngibl, Matthias Kettwig, K. Moeller, B. Acham-Roschitz, K. Arbeiter, M. Bald, M. Benz, M. Galiano, Ulrike John-Kroegel, G. Klaus, Daniela Marx-Berger, K. Moser, Dirk Mueller, L. Patzer, M. Pohl, Barbara Seitz, Ulrike Treikauskas, R. V. von Vigier, W. Gahl, K. Hohenfellner   +31 more
semanticscholar   +1 more source