Results 41 to 50 of about 3,609 (206)
SLC7A9 mutations in all three cystinuria subtypes
, 2002 SLC7A9 mutations in all three cystinuria subtypes.BackgroundCystinuria is an inherited disorder of cystine and dibasic amino acid transport in kidney.
Leclerc, Daniel +7 more
core +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +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
Advanced Photonics Research, Volume 7, Issue 2, February 2026.Recent advances in nanophotonics‐based chiral biosensing approaches are comprehensively reviewed, highlighting key trends, advantages, and limitations of each technology. Special attention is given to emerging strategies that exploit magneto‐optical and quantum plasmonic phenomena to enhance sensitivity down to the level of a few molecules, or even a ...
Jorge Ricardo Mejía‐Salazar
wiley +1 more source
Cystinuria: Genetic Aspects and Novel Pharmacotherapeutics
, 2022 This review provides an overview of the genetic aspects of cystinuria, as well as the novel pharmacotherapeutics that could potentially be used to treat the disease.
Stachula, Diana, Sahota, Amrik
core
Does instrumentation and irrigation configuration affect intrarenal pressure during PCNL?
BJUI Compass, Volume 7, Issue 2, February 2026.Abstract Objectives To measure the effects of varying configurations of nephroscope sheath, irrigation, instruments, and suction on intrarenal pressure (IRP) during percutaneous nephrolithotomy (PCNL). Materials and Methods Kidney and ureter 3D printed models from a deidentified patient's CT scan were placed in a plaster and foam mould, simulating the ...
Evan Seibly +15 more
wiley +1 more source
BMC Genomics, 2017 Background Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications.
Henry J. Martell +5 more
doaj +1 more source
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
Cystinuria—a urologist's perspective
, 2014 Cystinuria is a genetic disease that leads to frequent formation of stones. In patients with recurrent stone formation, particularly patients <30 years old or those who have siblings with stone disease, urologists should maintain a high index of ...
Withington, John +9 more
core +1 more source
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