Suggestions

Du même auteur

Spectrum of mutations in Gitelman syndrome.

Archive ouverte | Vargas-Poussou, Rosa | CCSD

International audience. Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Becaus...

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Archive ouverte | Mansour-Hendili, Lamisse | CCSD

International audience. Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable...

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Archive ouverte | Hureaux, Marguerite | CCSD

International audience. Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults. Precise diagnosis ca...

Chargement des enrichissements...