Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant Filipa Ferreira; Clara Gonçalves Bacelar; Pedro Lisboa-Gonçalves; Núria Paulo; Rita Quental; Ana Teresa Nunes; Roberto Silva; Isabel Tavares;

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene Francisco Gonçalves; Pedro Lisboa-Gonçalves; Rita Quental; Susana Fernandes; Sofia Quental; Laurence Michel-Calemard; Claire Goursaud; Sofia Marques; Joana Santos; Isabel Tavares; João Paulo Oliveira;