Observational studyUrolithiasis2021
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Observational study in Urolithiasis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Orphanet journal of rare diseases · 2025Article
- Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.Kidney diseases (Basel, Switzerland) · 2024Review
- Infant primary hyperoxaluria type 1Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Review
- Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.Pediatric nephrology (Berlin, Germany) · 2023Article
- Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.Urolithiasis · 2023Article
- Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.Nature reviews. Nephrology · 2023Review
- Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.Human mutation · 2023Article
- Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
The aim of our study is to explore the relationship between genotype and phenotype in Chinese PH1 patients and determine the putative mutation hotspot regions. This was a retrospective study regarding 13 Chinese PH1 patients. And all sporadic published researches of Chinese PH1 populations were searched and enrolled based on the inclusive standard. All patients presented with multiple urolithiasis or nephrolithiasis. Urinary oxalate values demonstrated an obvious and extensive variability, ranging from 1.01 to 3.85 mmol/1.73 m
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Registered trials
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