Results 21 to 30 of about 9,272 (239)
Novel mechanism for tubular injury in nephropathic cystinosis [PDF]
eLifeUnderstanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Swastika Sur +6 more
doaj +2 more sources
Patient journey in cystinosis: focus on non-adherence and disease management [PDF]
Drugs in ContextBackground: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Gema Ariceta +6 more
doaj +2 more sources
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]
J Inherit Metab DisABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc +2 more sources
Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesThere are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
Karina González +3 more
doaj +2 more sources
Fertility Management in Cystinosis: A Clinical Perspective [PDF]
Kidney International ReportsCystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Craig B. Langman +5 more
doaj +3 more sources
A Personal History of Cystinosis by Dr. Jerry Schneider
Cells, 2022 Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
doaj +1 more source
Autophagy, 2023 Differentiation and fate decisions are critical for the epithelial cells lining the proximal tubule (PT) of the kidney, but the signals involved remain unknown.
A. Luciani, O. Devuyst
semanticscholar +1 more source
Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients
Pharmaceutics, 2023 Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter, it can exit from the
Sabrina Klank +8 more
semanticscholar +1 more source
Scientific Reports, 2023 Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns ^−/− zebrafish ...
Tjessa Bondue +15 more
semanticscholar +1 more source
[Cystinosis: From the gene identification to the first gene therapy clinical trial].
Medecine sciences : M/S, 2023 Cystinosis is an autosomal recessive metabolic disease characterized by lysosomal accumulation of cystine in all the cells of the body. Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure ...
S. Cherqui
semanticscholar +1 more source