Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 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
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
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 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
Restored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.
Nieto-Romero V et al.
Iscience, 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
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
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 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
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
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
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 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
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
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
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan.
Hashmi S et al.
Urolithiasis, 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
Primary hyperoxaluria type 1: report of the worldwide largest family.
Agrebi I et al.
International Urology and Nephrology, 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
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
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