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
Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.
Liu Y et al.
Urolithiasis, 2024
Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Wang Z et al.
Frontiers in Genetics, 2023
Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.
Cai R et al.
Bmc Nephrology, 2019
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
Pelle A et al.
Journal of Nephrology, 2017
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Takayama T et al.
Clinical Genetics, 2014
[Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
Luo KZ et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 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
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.
Lam CW et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2001
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
Select a paper to view details