Results 61 to 70 of about 3,487 (162)
Dialysis Vintage and Symptom Burden in Hemodialysis: A Comprehensive Analysis
Nursing &Health Sciences, Volume 27, Issue 3, September 2025.ABSTRACT End‐stage renal disease (ESRD) requires lifelong maintenance hemodialysis (MHD), and patients commonly experience a high symptom burden that affects their quality of life. This study explores the impact of dialysis vintage on symptom burden and quality of life in ESRD patients undergoing MHD.
Shanshan Yan +4 more
wiley +1 more source
Pediatric Transplantation, Volume 29, Issue 6, September 2025.Adolescent kidney transplant candidates, not preadolescent candidates, exhibited greater executive functioning difficulties and mental health concerns during the COVID‐19 pandemic compared to adolescent candidates evaluated before the pandemic.
Finola E. Kane‐Grade +5 more
wiley +1 more source
A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis
Human Vaccines & Immunotherapeutics, 2020 We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan +7 more
doaj +1 more source
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Eurasian Journal of Medicine, 2019 Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray +4 more
doaj +1 more source
Renal Transplantation in Patients with Cystinosis – A Case Series
Indian Journal of TransplantationCystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. Renal involvement is the most serious manifestation of cystinosis leading to end-
Yashwanth Raj Thiagarajan +3 more
doaj +1 more source
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Pediatrics, 1960 Three cases of cystine storage disease occuring in one family are presented. In all three patients the diagnosis of cystine storage was established in vivo with the demonstration of cystine crystals in aspirated specimens of bone marrow and confirmed by paper chromatography of the urine in the two deceased siblings.
openaire +1 more source
Molecular based newborn screening in Germany: Follow-up for cystinosis
Molecular Genetics and Metabolism Reports, 2019 Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner +12 more
doaj +1 more source
Kurdistan Journal of Applied Research, 2018 Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein +2 more
doaj +1 more source
European Journal of Translational MyologyCystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically
Interuniversity Institute of Myology
doaj