Results 21 to 30 of about 7,637 (215)

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

Orphanet Journal of Rare Diseases, 2021
Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm   +4 more
doaj   +1 more source

Infantile Cystinosis [PDF]

, 2009
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core   +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

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [PDF]

, 2015
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis ...
A Haschemi, Annette P. M. van den Elzen, Arvand Haschemi, Benjamin Nota, C Nagy, CW Bassim, Gajja S. Salomons, George J. G. Ruijter, Isabel Tavares de Almeida, JW Touchman, KA Freed, Luisa Diogo, Mirjam M. C. Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, Nelson Neves, NM Verhoeven, Paula Garcia, Ramon Bonte, Ruben J. J. F. Ramos, SG Heil, T Kardon   +24 more
core   +4 more sources

Immunofluorescent Examination of Biopsies from Long-Term Renal Allografts [PDF]

, 1970
Immunofluorescent examination of open renal biopsies revealed clear-cut glomerular localization of immunoglobulins not related clearly to the quality of donor-recipient histocompatibility in 19 of 34 renal allografts.
Busch, Edgington, F. J. Dixon, J. J. McPhaul, L. Brettschneider, Peterson, Porter, Porter, Starzl, T. E. Starzl   +9 more
core   +1 more source

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +4 more sources

Cysteamine inhibits lysosomal oxidation of low density lipoprotein in human macrophages and reduces atherosclerosis in mice [PDF]

, 2019
Background and aims: We have shown previously that low density lipoprotein (LDL) aggregated by vortexing is internalised by macrophages and oxidised by iron in lysosomes to form the advanced lipid/protein oxidation product ceroid.
Ahmad, Ahmad, Bachmanov, Baglione, Berliner, Besouw M, Bouazza, Dabbagh, David S. Leake, Devlin, Dohil, Dohil, El-Saadani, Esterbauer, Feroz Ahmad, Firth, Garner, Gerry, Goldstein, Heinemann, Javed, Jezegou, Jürgens, Kalatzis, Karunakaran, Khoo, Kritharides, Kuo, Leake, Lee, Liu, Marathe, Min-Oo, Mitchinson, Negre-Salvayre, Ojo, Omran, Oorni, Paigen, Palinski, Peter D. Weinberg, Pisoni, Portman, Quinn, Rajavashisth, Ruuth, Satchell, Schissel, Singh, Singh, Siow, Sneck, Steinberg, Steinberg, Tangirala, Tennezé, Tricon, Tsimikas, Ueda, Walters, Walters, Wen, Wilkins, Williams, Williams, Xu, Yichuan Wen, Yin, Yin, Yu, Yuan, Zahra Mohri, Zhang, Öörni   +73 more
core   +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

Fertility in Cystinosis

Cells, 2021
Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications.
Ahmed Reda, Koenraad Veys, Martine Besouw   +2 more
doaj   +1 more source