Associated Papers
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.
Bakkaloğlu SA et al.
Nephrology (carlton, Vic.), 2024
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G et al.
Pediatric Nephrology (berlin, Germany), 2023
Primary hyperoxaluria type 1: pathophysiology and genetics.
Fargue S et al.
Clinical Kidney Journal, 2022
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F et al.
Urolithiasis, 2021
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
Kanoun H et al.
Bmc Nephrology, 2017
Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.
van der Hoeven SM et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2004
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 0
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Monico CG et al.
American Journal of Nephrology, 0
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
American Journal of Nephrology, 0
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
Frishberg Y et al.
American Journal of Nephrology, 0
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 0