Associated Papers
Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
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Pediatric Nephrology (berlin, Germany), 2026
Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report.
Farooq B et al.
Annals of Medicine and Surgery (2012), 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
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Primary hyperoxaluria: a case series.
Rather JI et al.
Journal of Medical Case Reports, 2023
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.
Chatterjee A et al.
Frontiers in Molecular Biosciences, 2022
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
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Takayama T et al.
Clinical Genetics, 2014
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.
Booth MP et al.
Journal of Molecular Biology, 2006
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Cregeen DP et al.
Human Mutation, 2003
Primary hyperoxaluria type 2 in children.
Johnson SA et al.
Pediatric Nephrology (berlin, Germany), 2002
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).
Webster KE et al.
Human Genetics, 2000
Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.
Singhania P et al.
Indian Journal of Nephrology, 0
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