Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Hyperoxaluria by the AGXT gene: a case report.
Naghettini AV et al.
Journal of Medical Case Reports, 2026
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
Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.
Sayed B et al.
Orphanet Journal of Rare Diseases, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Wang X et al.
Kidney International Reports, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.
Saffe S et al.
Pediatric Nephrology (berlin, Germany), 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic study of Alport syndrome in Tunisia.
Younsi ME et al.
Pediatric Nephrology (berlin, Germany), 2025
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
Hashmi JA et al.
Nephrology (carlton, Vic.), 2025
Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.
Deesker LJ et al.
Kidney International Reports, 2024
Unveiling primary Hyperoxaluria type 1: a fortuitous discovery through bone marrow biopsy.
Aaboudech TY et al.
Oxford Medical Case Reports, 2024
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
Lumasiran treatment in pediatric patients with PH1: real-world data within a compassionate use program in Italy.
Taroni F et al.
Clinical Kidney Journal, 2024
Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs.
Huang Y et al.
Biomolecules, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.
Bakkaloğlu SA et al.
Nephrology (carlton, Vic.), 2024
Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
Naguib S et al.
Genetic Testing and Molecular Biomarkers, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Primary hyperoxaluria: a case series.
Rather JI et al.
Journal of Medical Case Reports, 2023
A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure.
Mittal A et al.
Cureus, 2023
Clinical utility of genetic testing in Indian children with kidney diseases.
Saha A et al.
Bmc Nephrology, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Alfadhel M et al.
Pediatric Nephrology (berlin, Germany), 2023
Unusual cause of cerebral calcifications in an 8-year-old girl.
Boussetta A et al.
Clinical Case Reports, 2023
Lessons for the clinical nephrologist: lumasiran as the future cornerstone treatment for patients with primary hyperoxaluria type 1?
Gillion V et al.
Journal of Nephrology, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW et al.
Nature Reviews. Nephrology, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International 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
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.
Xin Q et al.
Frontiers in Genetics, 2023
Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Wang Z et al.
Frontiers in Genetics, 2023
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
Ge Y et al.
Human Mutation, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Soliman NA et al.
Scientific Reports, 2022
Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.
Ahmed HA et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Huang L et al.
Molecular Genetics and Genomics : Mgg, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.
Mandrile G et al.
Journal of Nephrology, 2022