Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic

by admin | Oct 16, 2025 | Publications

Schott C, Alajmi M, Bukhari M, et al (2025) Genes (Basel) 16 https://doi.org/10.3390/genes16040408

Interaction of Selected Anthracycline and Tetracycline Chemotherapeutics with Poly(I:C) Molecules

by admin | Oct 16, 2025 | Publications

Skaličková M, Abramenko N, Charnavets T, et al (2025) ACS Omega 10:15935–15946. https://doi.org/10.1021/acsomega.4c05483

Recent Advances in Understanding the Pathophysiology of Fabry Disease

by admin | Oct 16, 2025 | Publications

Warnock DG, Linhart A, Bleyer AJ, Kmoch S (2025) Nephron 569–571 https://doi.org/10.1159/000546085

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis

by admin | Oct 16, 2025 | Publications

Zikanova M, Skopova V, Stuurman KE, et al (2025) J Inherit Metab Dis 48:1–8 https://doi.org/10.1002/jimd.70041

Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response

by admin | Oct 16, 2025 | Publications

Published publications Živná M, Lenders M, Kmoch S (2025) Nephron 580–590. https://doi.org/10.1159/000545388