Associated Papers
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Wang X et al.
Kidney International Reports, 2025
40814648 (PubMed )
Supplement: mmc1.pdf
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
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
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Abid A et al.
Human Mutation, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 2022
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L et al.
Pediatric Nephrology (berlin, Germany), 2015
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
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