Results 41 to 50 of about 7,589 (245)

Synthesis of diacylated γ-glutamyl-cysteamine prodrugs, and in vitro evaluation of their cytotoxicity and intracellular delivery of cysteamine [PDF]

, 2015
To overcome the major disadvantages of cysteamine, the only registered treatment for the rare genetic disease cystinosis, nine prodrugs of γ-glutamyl-cysteamine (4) were synthesized for evaluation.
Anderson, Rosaleen, Cannell, Stephanie, Frost, Lisa, Groundwater, Paul, Hambleton, Paul, Suryadevara, Pratap   +5 more
core   +1 more source

Infantile nephropathic cystinosis [PDF]

Srpski arhiv za celokupno lekarstvo, 2011
Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective. To examine the prevalence and clinical characteristics of INC in paediatric patients with end- stage renal disease (ESRD) in Serbia and give a recent statement of the ...
Amira Peco-Antic, Mirjana Kostic, Radovan Bogdanovic, Brankica Spasojevic, Maja Djordjevic, Dusan Paripovic, Dragana Kovacevic   +6 more
openaire   +3 more sources

Grip Strength in Adults and Children with Cystinosis

Kidney International Reports, 2021
Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Helina Iyob-Tessema, Chia-Shi Wang, Sabina Kennedy, Loretta Reyes, Stella Shin, Larry A. Greenbaum, Julien Hogan   +6 more
doaj   +1 more source

Metabolism of pantethine in cystinosis. [PDF]

Journal of Clinical Investigation, 1985
D-Pantethine is a conjugate of the vitamin pantothenic acid and the low-molecular-weight aminothiol cysteamine. Pantethine is an experimental hypolipemic agent and has been suggested as a source of cysteamine in the treatment of nephropathic cystinosis.
Wittwer, C. T., Gahl, W. A., Butler, J. Deb., Zatz, M., Thoene, J. G.   +4 more
openaire   +5 more sources

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Central Nervous System Complications in Cystinosis: The Role of Neuroimaging

Cells, 2022
Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients.
Aude Servais, Jennifer Boisgontier, Ana Saitovitch, Aurélie Hummel, Nathalie Boddaert   +4 more
doaj   +1 more source

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +1 more source

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]

, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne, Bailleux, Anne, Catz, Sergio D, Cherqui, Stephanie, Cheung, Wai W, Gubler, Marie-Claire, Guerrera, Ida Chiara, Lobry, Tatiana, Mak, Robert H, Miller, Roy, Montier, Tristan, Moore, Fiona, Nevo, Nathalie, Pouly, Daniel, Rocca, Celine J, Thomas, Lucie, Zhang, Jinzhong   +16 more
core  

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

Transplantation in children [PDF]

, 1976
Kidney transplantation in very young children, less than 2 years of age, has usually failed, mainly because of difficulties maintaining these patients on hemodialysis long enough to permit retransplantation after loss of the original graft.
Charles W. Putnam, DeShazo, Kendrick A. Porter, Lilly, Lilly, Richard Weil, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl   +15 more
core   +1 more source