Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Zhu X et al.
Kidney Diseases (basel, Switzerland), 2024
39131880 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.pdf
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Jung J et al.
Clinical Genetics, 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
35812297 (PubMed )
Supplement: mmc1.pdf
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
33691640 (PubMed )
Supplement: 12882_2021_2276_MOESM5_ESM.xlsx › Sheet1
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F et al.
Urolithiasis, 2021
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 2021
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
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Boualla L et al.
Genetic Testing and Molecular Biomarkers, 2015
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2004
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