Results 51 to 60 of about 6,666 (226)
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
Journal of Research in Medical Sciences, 2017 Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1.
Samaneh Markazi +3 more
doaj +1 more source
Clinical profile of a Polish cohort of children and young adults with cystinuria
Renal Failure, 2021 Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk +16 more
doaj +1 more source
Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.ALDH2 polymorphisms are associated with increased risk of nephrolithiasis in humans, and Aldh2 deficiency promotes kidney stone formation in mice, especially under alcohol exposure. ABSTRACT Background Nephrolithiasis is a common urological disorder and has become a significant global public health issue.
Tao Liu +11 more
wiley +1 more source
Redox Biology, 2023 The high recurrence rate of cystine lithiasis observed in cystinuria patients highlights the need for new therapeutic options to address this chronic disease.
Clara Mayayo-Vallverdú +15 more
doaj +1 more source
Basic &Clinical Pharmacology &Toxicology, Volume 138, Issue 1, January 2026.ABSTRACT The accelerating integration of rare earth elements (REEs) in advanced technologies has generated rising concern over human exposure and the attendant toxicological risks. This review presents an up‐to‐date synthesis of current evidence on REE toxicity across multiple exposure pathways, including inhalation, ingestion and occupational contact,
Jose L. Domingo
wiley +1 more source
Comparison of four different algorithms for the calculation of radioimmunoassay standard curves [PDF]
, 1980 Peer ...
Herndl, R. +2 more
core +2 more sources
Biosensors, 2021 The measurement of cysteine in human urine and live cells is crucial for evaluating biological metabolism, monitoring and maintaining the immune system, preventing tissue/DNA damage caused by free radicals, preventing autoimmune diseases, and diagnosing ...
Gyu Seong Yeom +6 more
doaj +1 more source
Nephrolithiasis risk factors for obese patients on 24‐hour urine collection metabolic evaluation
BJUI Compass, Volume 6, Issue 11, November 2025.Abstract Objectives Twenty‐four‐hour urine collections are obtained as part of the metabolic workup for nephrolithiasis to identify modifiable abnormalities for stone prevention. We sought to discern trends in the prevalence of abnormalities based on body mass index (BMI) (kg/m2).
Mark I. Sultan +8 more
wiley +1 more source
An integrated 4249 marker FISH/RH map of the canine genome [PDF]
, 2004 BACKGROUND: The 156 breeds of dog recognized by the American Kennel Club offer a unique opportunity to map genes important in genetic variation. Each breed features a defining constellation of morphological and behavioral traits, often generated by ...
André, Catherine +17 more
core +3 more sources