Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
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Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
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Clinical Kidney Journal, 2025
40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Abid A et al.
Human Mutation, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Abid A
Molecular Biology Reports, 2021
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.
Wang W et al.
Kidney & Blood Pressure Research, 2019
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
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L et al.
Pediatric Nephrology (berlin, Germany), 2015
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