Associated Papers
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Genetic study of Alport syndrome in Tunisia.
Younsi ME et al.
Pediatric Nephrology (berlin, Germany), 2025
Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Zhu X et al.
Kidney Diseases (basel, Switzerland), 2024
A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure.
Mittal A et al.
Cureus, 2023
Unusual cause of cerebral calcifications in an 8-year-old girl.
Boussetta A et al.
Clinical Case Reports, 2023
Effect of liver transplantation with primary hyperoxaluria type 1: Five case reports and review of literature.
Wang XY et al.
World Journal of Clinical Cases, 2023
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad H et al.
Bmc Medical Genomics, 2021
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F et al.
Urolithiasis, 2021
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
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
Li X et al.
The Tohoku Journal of Experimental Medicine, 2018
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.
Talati JJ et al.
Urolithiasis, 2018
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.
Dulz S et al.
Ophthalmic Genetics, 2018
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
Kanoun H et al.
Bmc Nephrology, 2017
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.
Mbarek IB et al.
Bmc Nephrology, 2017
A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
Kanoun H et al.
Gene, 2013
Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Nagara M et al.
Gene, 2013
Common mutation underlying primary hyperoxaluria type1 in three Indian children.
Chanchlani R et al.
Indian Journal of Nephrology, 2012
Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.
Benhaj Mbarek I et al.
Bmc Nephrology, 2011
Primary hyperoxaluria in a compound heterozygote infant.
Mayordomo-Colunga J et al.
World Journal of Pediatrics : Wjp, 2011
Cardiac abnormalities in primary hyperoxaluria.
Mookadam F et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Williams EL et al.
Human Mutation, 2009
Primary hyperoxaluria type 1 with a novel mutation.
Sethi SK et al.
Indian Journal of Pediatrics, 2009
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Williams E et al.
Clinical Chemistry, 2007
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
Williams EL et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2006
Primary hyperoxaluria type 1: is genotyping clinically helpful?
Leumann E et al.
Pediatric Nephrology (berlin, Germany), 2005
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Rumsby G et al.
Kidney International, 2004
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
The primary hyperoxalurias: an algorithm for diagnosis.
Milliner DS
American Journal of Nephrology, 0
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
American Journal of Nephrology, 0
Primary hyperoxaluria--the German experience.
Hoppe B 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
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.
Rhuma NR et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0