Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Effect of liver transplantation with primary hyperoxaluria type 1: Five case reports and review of literature.
Wang XY et al.
World Journal of Clinical Cases, 2023
Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review.
Cai Z et al.
Bmc Nephrology, 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.
Bmc Nephrology, 2021
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F et al.
Urolithiasis, 2021
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
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
Li X et al.
The Tohoku Journal of Experimental Medicine, 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
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K et al.
Journal of the American Society of Nephrology : Jasn, 2015
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
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
Pittman AM et al.
Genetics, 2012
Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.
Alkhunaizi AM et al.
Jimd Reports, 2012
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Williams E et al.
Clinical Chemistry, 2007
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007