ArticleFrontiers in genetics2020
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.Pediatric nephrology (Berlin, Germany) · 2023Article
- Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report.BMC urology · 2023Article
- Genetic and clinical analysis of Chinese pediatric patients with cystinuria.Urolithiasis · 2022Article
- Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated
methodUrinary stones were collected from patients of a single center over a five-year period and analyzed
resultsFrom the 232 samples of urinary stones, we identified 13 patients with CU (10 males and 3 females). The onset age was from 7 months to 9 years. The CU stones varied from 0.26 cm
conclusionAll 13 pediatric CU families harbored
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