Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Lumasiran treatment in pediatric patients with PH1: real-world data within a compassionate use program in Italy.
Taroni F et al.
Clinical Kidney Journal, 2024
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.
Bakkaloğlu SA et al.
Nephrology (carlton, Vic.), 2024
Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
Naguib S et al.
Genetic Testing and Molecular Biomarkers, 2024
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Soliman NA et al.
Scientific Reports, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad H et al.
Bmc Medical Genomics, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.
Soliman NA et al.
Nephrologie & Therapeutique, 2017
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L et al.
Pediatric Nephrology (berlin, Germany), 2015
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Mandrile G et al.
Kidney International, 2014
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB et al.
European Journal of Human Genetics : Ejhg, 2013
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