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Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
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Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
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Pediatric Nephrology (berlin, Germany), 2023
Clinical analysis of 13 children with primary hyperoxaluria type 1.
Lin JA et al.
Urolithiasis, 2021
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
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Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.
Zhao Y et al.
Translational Andrology and Urology, 2020
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
Dindo M et al.
Journal of Inherited Metabolic Disease, 2018
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Williams EL et al.
Molecular Genetics & Genomic Medicine, 2015
Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1.
Alfadhel M et al.
Therapeutics and Clinical Risk Management, 2012
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