Results 51 to 60 of about 3,609 (206)

Bladder outlet obstruction in male cystinuria mice

, 2009
Background: Cystinuria is the most common inherited cause of urinary tract stones in children. It can lead to obstructive uropathy, which is a major cause of renal failure.
Reimer, David, Min Yang, Sahota, Amrik, Levin, Robert M., Joseph G. Barone, Catherine Schuler, Amrik Sahota, Evan, Andrew P., Barone, Joseph G., Tischfield, Jay A., Andrew P. Evan, Robert M. Levin, Ercolani, Mathew, Yang, Min, Jay A. Tischfield, Mathew Ercolani, Schuler, Catherine, David Reimer   +17 more
core   +1 more source

Molecular characterization of cystinuria in south-eastern European countries

, 2013
Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as
Pavicevic S., Tasic V., Saraga M., Sukarova Stefanovska E., Gregoric A., Soylu A., Bogdanovic R., Lilova M., Popovska-Jankovic K., Plaseska-Karanfilska D., Topaloglu R., Miljkovic P., Akil I., Baskin E., Golubovic E.   +14 more
core   +2 more sources

Detection of Mutation in Exons 3 and 8 of SLC3A1 and Exons 4 and 10 of SLC7A9 Genes in Patients with Cystinuria in Iran

مجله دانشکده پزشکی اصفهان, 2014
Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine.
Leila Koulivand, Mehrdad Mohammadi, Rasoul Salehi, Behrouz Ezatpour, Majid Kheirollahi   +4 more
doaj  

Mass Spectrometry-based in vitro Assay to Identify Drugs that Influence Cystine Solubility

Bio-Protocol, 2017
Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the dimer of the amino acid cysteine (Sumorok and Goldfarb, 2013).
Neelanjan Bose, Tiffany Zee, Pankaj Kapahi, Marshall Stoller   +3 more
doaj   +1 more source

Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature

Frontiers in Medicine, 2023
Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations.
Ema Ivandic, Marjan Maric, Vesna Elvedi-Gasparovic, Margareta Fistrek Prlic, Lovro Lamot, Lovro Lamot, Bojan Jelakovic, Bojan Jelakovic, Ivana Vukovic Brinar, Ivana Vukovic Brinar   +9 more
doaj   +1 more source

Chelation Therapy for Rare Earth Element Toxicity: Current Evidence, Challenges and Future Directions

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

Urolithiasis Prevalence and Associated Factors Among Adult Outpatients in Addis Ababa, Ethiopia: A Cross‐Sectional Study

BioMed Research International, Volume 2026, Issue 1, 2026.
Background Urolithiasis represents a substantial global health concern with considerable morbidity. Limited epidemiological data exist regarding its prevalence and associated factors in Ethiopia, particularly in urban settings. This cross‐sectional study is aimed at determining the prevalence of urolithiasis and identifying associated risk factors ...
Mitiku Desalegn, Balkew Belay Girma, Yidnekachew Dedachew, Zelalem Negash, Tewoderos Shitemaw, Poorani Gurumallesh Prabu   +5 more
wiley   +1 more source

2p21 Deletions in hypotonia-cystinuria syndrome

, 2012
The significant role of the SLC3A1 gene in the aetiology of cystinuria is meanwhile well established and more than 130 point mutations have been reported. With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene
Venghaus, Andreas, Ensenauer, Regina, Eggermann, Thomas, Baudis, Michael; https://orcid.org/, Spengler, Sabrina, Zerres, Klaus, Denecke, Bernd, Baudis, Michael   +7 more
core   +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, Satoshi Yamazaki, Shady A. Ibrahim, Hadeel Haddad, Antoinette Abdelmalek, Sohrab N. Ali, Mac Kinnly T. Knoerzer, Muhammed A. M. Hammad, Ramy F. Youssef   +8 more
wiley   +1 more source

SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system [PDF]

, 2013
Cystinuria, one of the first recognized inborn errors of metabolism, has been reported in many dog breeds. The objective was to determine urinary cystine concentrations, inheritance and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria ...
Brons, Ann-Kathrin
core   +1 more source