Associated Papers
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan R et al.
Urolithiasis, 2022
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M et al.
Renal Failure, 2021
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.
Li C et al.
Frontiers in Genetics, 2020
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Yuen YP et al.
Kidney International, 2006
Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.
Fjellstedt E et al.
Urological Research, 2003
Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Harnevik L et al.
Genetic Testing, 2003
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