Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.
Martínez-Galindo R et al.
Journal of Clinical Medicine, 2026
Nanobodies as therapies for loss-of-function misfolding diseases: the example of Primary Hyperoxaluria Type 1.
Dindo M et al.
International Journal of Biological Macromolecules, 2025
Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.
Lieske JC et al.
Kidney Medicine, 2025
Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.
Wu CW et al.
Seminars in Nephrology, 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
Simultaneous or sequential kidney-liver transplantation in primary hyperoxaluria.
Arena M et al.
Journal of Nephrology, 2025
Effect of the allelic background on the phenotype of primary hyperoxaluria type I.
Mandrile G et al.
Current Opinion in Nephrology and Hypertension, 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
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
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
Natural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.
Sas DJ et al.
Pediatric Nephrology (berlin, Germany), 2024
Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 30-month analysis of the phase 3 ILLUMINATE-B trial.
Frishberg Y et al.
Frontiers in Pediatrics, 2024
Is Genotype the Major Outcome Parameter of Kidney Failure in Patients With Primary Hyperoxaluria Type 1?
Vali PS et al.
Kidney International Reports, 2023
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure.
Mittal A et al.
Cureus, 2023
A case report of invasive infantile primary hyperoxaluria type 1 and literature review.
Ni T et al.
Cen Case Reports, 2023
Unusual cause of cerebral calcifications in an 8-year-old girl.
Boussetta A et al.
Clinical Case Reports, 2023
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G et al.
Pediatric Nephrology (berlin, Germany), 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
Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1.
Loos S et al.
Frontiers in Pediatrics, 2023
Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center.
Meriam H et al.
International Journal of Nephrology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.
Grottelli S et al.
Journal of Medicinal Chemistry, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria.
Forbes TA et al.
British Journal of Clinical Pharmacology, 2022
Treatment of primary hyperoxaluria type 1.
Gupta A et al.
Clinical Kidney Journal, 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
Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.
Fatima A et al.
Cureus, 2022
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.
Metry EL et al.
Kidney International Reports, 2022
Lumasiran for primary hyperoxaluria type 1: What we have learned?
Gang X et al.
Frontiers in Pediatrics, 2022
Clinical analysis of 13 children with primary hyperoxaluria type 1.
Lin JA et al.
Urolithiasis, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.
Dindo M et al.
Journal of Personalized Medicine, 2021
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
Bmc Nephrology, 2021
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F et al.
Urolithiasis, 2021
Calciphylaxis or vascular oxalosis?
El-Saygeh S et al.
Clinical Kidney Journal, 2021
The Struggling Odyssey of Infantile Primary Hyperoxaluria.
Guillaume A et al.
Frontiers in Pediatrics, 2021
Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.
Poyah P et al.
Canadian Journal of Kidney Health and Disease, 2021
Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.
Sikora P et al.
Polish Archives of Internal Medicine, 2020
Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives.
Devresse A et al.
Kidney International Reports, 2020