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
Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
Keskinen T et al.
Journal of Inherited Metabolic Disease, 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
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.
Lieske JC et al.
Kidney Medicine, 2025
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Wang X et al.
Kidney International Reports, 2025
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.
Ruta L et al.
Journal of Inherited Metabolic Disease, 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
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 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
Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment.
Wu M et al.
Frontiers in Pharmacology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 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
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International 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
Infant primary hyperoxaluria type 1: A case report and literature review.
Zheng Y et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2024
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.
Pszczolinski R et al.
Clinical Kidney Journal, 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
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
In vivo base editing rescues primary hyperoxaluria type 1 in rats.
Chen Z et al.
Kidney International, 2024
Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
Vankova P et al.
Febs Letters, 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
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
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
Primary hyperoxaluria: a case series.
Rather JI et al.
Journal of Medical Case Reports, 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Stiripentol and Lumasiran as a Rescue Therapy for Oxalate Nephropathy Recurrence After Kidney Transplantation in an Adult Patient With Primary Hyperoxaluria Type 1.
Lombardi Y et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2023
Late Diagnosis of Primary Hyperoxaluria in an Adult Patient With End-Stage Renal Disease and Bicytopenia.
Miry A et al.
Cureus, 2023
Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?
Biebuyck N et al.
Journal of Nephrology, 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
Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.
Xin Q et al.
Frontiers in Genetics, 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
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
Ge Y et al.
Human Mutation, 2023
Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants.
Neira JL et al.
Molecules (basel, Switzerland), 2022
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Soliman NA et al.
Scientific Reports, 2022