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;

Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas Eloísa Sánchez-Cazorla; Borja Temes Álvarez; Pilar Oliveros Martínez; Pedro Fortes González; María García-Murias; Ana María Barcia de la Iglesia; Noa Carrera; Miguel Ángel García-González;

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant Anamarija Meglic; Marusa Debeljak; Jernej Kovac; Alenka Trampus Bakija; Vladan Rajic; Nika Kojc; Katarina Trebusak Podkrajsek;