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
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
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
Isiyel E et al.
Molecular Genetics and Metabolism, 2016
Molecular characterization and phenotypical study of β-thalassemia in Tucumán, Argentina.
Lazarte SS et al.
Hemoglobin, 2014
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
van Woerden CS et al.
Kidney International, 2004
Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.
Shoujaa A et al.
Hemoglobin, 0
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