Results 31 to 40 of about 6,550 (239)
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
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
Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney. [PDF]
, 2012 The transcription factor HNF1B, encoded by the TCF2 gene, plays an important role in the organogenesis of vertebrates. In humans, heterozygous mutations of HNF1B are associated with several diseases, such as pancreatic β-cell dysfunction leading to ...
Brändli, André W. +6 more
core +4 more sources
Recurrent nephrolithiasis: Cystinuria [PDF]
Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016 Lalić Tijana +7 more
doaj +3 more sources
In vitro assessment of antimicrobial, antioxidant, and cytotoxic properties of Saccharin-Tetrazolyl and-Thiadiazolyl derivatives: the simple dependence of the pH value on antimicrobial activity [PDF]
, 2019 The antimicrobial, antioxidant, and cytotoxic activities of a series of saccharin-tetrazolyl and -thiadiazolyl analogs were examined. The assessment of the antimicrobial properties of the referred-to molecules was completed through an evaluation of ...
Andrade, Joana M. +9 more
core +1 more source
CASE REPORT OF A PATIENT WITH CYSTINURIA
Slovenska pediatrija, 2020 Cystinuria is a rare genetic disease characterised by the appearance of kidney stones. Clinically, it is manifested by renal pain, fever or haematuria. In untreated patients, stones may cause urinary tract obstruction and endanger the kidney.
Matej Kemperle, Robert Kordič, Rina Rus
doaj +1 more source
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
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