Results 31 to 40 of about 6,103 (223)
Renal Replacement Therapy, 2019 Background Cystinuria is a rare autosomal recessive metabolic disorder that affects renal and intestinal cystine transport. Cystine stones are found in only 1–2% of all stone formers.
Masatoshi Matsunami +7 more
doaj +1 more source
ACVIM Small Animal Consensus Recommendations on the Treatment and Prevention of Uroliths in Dogs and Cats. [PDF]
, 2016 In an age of advancing endoscopic and lithotripsy technologies, the management of urolithiasis poses a unique opportunity to advance compassionate veterinary care, not only for patients with urolithiasis but for those with other urinary diseases as well.
Adams, LG +5 more
core +1 more source
Comptes rendus. Chimie, 2021 Medical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits.
Dominique Bazin +15 more
semanticscholar +1 more source
Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report
BMC Urology, 2023 Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai +11 more
doaj +1 more source
BMC Nephrology, 2018 Background Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative.
Kathrin Olschok +4 more
doaj +1 more source
Potential diagnostic assay for cystinuria by capillary electrophoresis coupled to mass spectrometry [PDF]
, 2013 Cystinuria is an autosomal recessive genetic disorder characterized by abnormal intestinal and renal tubular transport of L-cystine as well as of L-lysine, L-arginine and L-ornithine.
Assunção, Nilson Antonio +3 more
core +2 more sources
Société Internationale d’Urologie Journal, 2023 ObjectiveTo describe the genetic mutations and phenotype in the first African series of patients with cystinuria. MethodsPatients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA ...
Lisa-Ann Kaestner +4 more
doaj +1 more source
Gene therapy for kidney disease: targeting cystinuria
Current opinion in nephrology and hypertension, 2021 Purpose of review The aim of this study was to summarize recent findings in kidney gene therapy while proposing cystinuria as a model kidney disease target for genome engineering therapeutics.
Jennifer L Peek, Matthew H. Wilson
semanticscholar +1 more source
Risks Associated with Drug Treatments for Kidney Stones [PDF]
, 2015 Introduction: Renal stones are one of the most painful medical conditions patients experience. For many they are also a recurrent problem. Fortunately, there are a number of drug therapies available to treat symptoms as well as prevent future stone ...
Borofsky, Michael S. +2 more
core +1 more source