Results 31 to 40 of about 1,950 (208)
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
doaj +1 more source
, 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
Clinical Pharmacology in Drug Development, Volume 10, Issue 8, Page 859-869, August 2021., 2021 Abstract ELX‐02 is an investigational compound being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis. Structurally, ELX‐02 is an aminoglycoside analogue that induces read‐through of nonsense mutations through interaction with the ribosome, resulting in the production of full‐length functional proteins ...
Andi Leubitz +8 more
wiley +1 more source
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
Executive Function in Nephropathic Cystinosis [PDF]
Cognitive and Behavioral Neurology, 2013 We studied executive function (EF) in children and adolescents with cystinosis.Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities.
Angela O, Ballantyne +2 more
openaire +2 more sources
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 +24 more
core +4 more sources
Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype
Cells, 2022 Nephropathic cystinosis is a rare and severe disease caused by disruptions in the CTNS gene. Cystinosis is characterized by lysosomal cystine accumulation, vesicle trafficking impairment, oxidative stress, and apoptosis. Additionally, cystinotic patients
Elena Sendino Garví +2 more
doaj +1 more source
, 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.
Besouw, Martine +2 more
core +3 more sources
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
Clinical Case Reports, 2018 Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease.
Kozina A. Anastasiya +10 more
doaj +1 more source
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 +5 more
core +1 more source