3 documents found, page 1 of 1
Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tol...
Lapão, Tânia; Barata, Rui; Jorge, Cristina; Flores, Carlos; Calado, JoaquimWith the approval of tolvaptan as the first specific medicine for the treatment of rapidly progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD), biomarker discovery has gained renewed interest as it is widely recognized that these will be crucial in clinical decision-making, serving as either prognostic or predictive tools. Since the marketing authorization was first issued in 2015 for ADPKD, tolvap...
IgA Nephropathy and Remitting Seronegative Symmetrical Synovitis with Pitting E...
Damas, Juliana; Marouço, Catarina; Barata, Rui; Pereira, Tiago Assis; Fonseca, Nuno Moreira; Navarro, David; Góis, Mário; Viana, Helena; Sousa, JoãoPublisher Copyright: © The Author(s) 2024.; IgA nephropathy (IgAN) remains the most frequent glomerular disease worldwide, with a broad spectrum of clinical and histological presentations. It has been associated with many secondary causes. The remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is an autoimmune disorder characterized by swelling in the extremities and negative autoi...
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohor...
Barata, Rui; Fila, Marc; Dalla-Vale, Fabienne; Bogarin, Roberto; Nunes, Paula; Ramalho, José; Rueff, Jose; Calado, JoaquimFunding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.; Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (16p11.2), encoding SGLT2 ...