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;

Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications Eloísa Sánchez-Cazorla; Borja Temes-Álvarez; Pilar Oliveros-Martínez; Pedro Fortes-González; María García-Murias; Ana 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;