Associated Papers
Hyperoxaluria by the AGXT gene: a case report.
Naghettini AV et al.
Journal of Medical Case Reports, 2026
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
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Soliman NA et al.
Scientific Reports, 2022
Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.
Ahmed HA et al.
Molecular Genetics & Genomic Medicine, 2022
Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.
Sikora P et al.
Polish Archives of Internal Medicine, 2020
DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.
Derveaux T et al.
Retina (philadelphia, Pa.), 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
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