Associated Papers
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
A molecular journey on the pathogenesis of primary hyperoxaluria.
Cellini B
Current Opinion in Nephrology and Hypertension, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.
Ge Y et al.
World Journal of Urology, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW et al.
Nature Reviews. Nephrology, 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
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Abid A et al.
Human Mutation, 2022
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Abid A
Molecular Biology Reports, 2021
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Ventzke A et al.
Pediatric Nephrology (berlin, Germany), 2017
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
M'dimegh S et al.
Journal of Clinical Laboratory Analysis, 2017
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L et al.
Pediatric Nephrology (berlin, Germany), 2015
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB et al.
European Journal of Human Genetics : Ejhg, 2013
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.
Riedel TJ et al.
Biochimica Et Biophysica Acta, 2012
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Monico CG et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.
Riedel TJ et al.
Plos One, 2011