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

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

by admin | Oct 16, 2025 | Publications

Unpublished preprint Anderson KJ, Thorolfsdottir ET, Nodelman IM, et al (2025) . medRxiv Prepr Serv Heal Sci. https://doi.org/10.1101/2025.05.06.25326635

Single-nucleus transcriptome analysis provides new insights into B chromosome elimination in sorghum

by admin | Oct 16, 2025 | Publications

Unpublished preprint Bojdová T, Abaffy P, Holušová K, et al (2025) bioRxiv 2025.10.07.680864 https://doi.org/10.1101/2025.10.07.680864

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

by admin | Oct 16, 2025 | Publications

Unpublished preprint Çubuk H, Plech M, Aslanzadeh V, et al (2025) bioRxiv 2025.08.15.670494. https://doi.org/10.1101/2025.08.15.670494