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
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
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
Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale? [PDF]
, 2014 International audienceWith an incidence of 1:7000 births, cystinuria, the most frequent cause of stone formation among genetic diseases, represents a major medical problem.
Dominique Bazin +5 more
core +3 more sources
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
Primary hyperparathyroidism can generate recurrent pancreatitis and secondary diabetes mellitus – A case report [PDF]
, 2019 Introduction. Acute or recurrent pancreatitis may be a complication of primary hyperparathyroidism and patients with previous episodes of pancreatitis may develop secondary diabetes mellitus. Case report.
Dănciulescu Miulescu, Rucsandra Elena +4 more
core +2 more sources
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
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Iranian Journal of Public Health, 2021 Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi +4 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit +15 more
doaj +1 more source