Associated Papers
Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
Hashmi S et al.
Pediatric Nephrology (berlin, Germany), 2026
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Late-onset retinal oxalosis in primary hyperoxaluria type 2.
Bhuyan R et al.
American Journal of Ophthalmology Case Reports, 2024
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.
Liu Y et al.
Urolithiasis, 2024
Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs.
Huang Y et al.
Biomolecules, 2024
Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.
Krishnasamy S et al.
Pediatric Nephrology (berlin, Germany), 2024
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
Successful Treatment of Primary Hyperoxaluria Type 2 with a Combined Liver and Kidney Transplant.
Genena KM et al.
Kidney International Reports, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
Ge Y et al.
Human Mutation, 2023
Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.
Cai R et al.
Bmc Nephrology, 2019
[Genetic and biochemical features of the monogenic hereditary urolithiasis].
Mikhaylenko DS et al.
Biomeditsinskaia Khimiia, 2018
Primary hyperoxaluria: spectrum of clinical and imaging findings.
Strauss SB et al.
Pediatric Radiology, 2017
A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II.
Fu Y et al.
Clinical Genetics, 2015
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K et al.
Journal of the American Society of Nephrology : Jasn, 2015
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
Cardiac abnormalities in primary hyperoxaluria.
Mookadam F et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
Predictive factors of oxaliplatin neurotoxicity: the involvement of the oxalate outcome pathway.
Gamelin L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.
Takayama T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.
Bhat S et al.
Clinical Chemistry, 2005
An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.
Rumsby G
Urological Research, 2005
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Rumsby G et al.
Kidney International, 2004
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Cregeen DP et al.
Human Mutation, 2003
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
The primary hyperoxalurias: an algorithm for diagnosis.
Milliner DS
American Journal of Nephrology, 0
Primary hyperoxaluria--the German experience.
Hoppe B et al.
American Journal of Nephrology, 0