Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort

ANGLANI, FRANCA;
2018

Abstract

Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3211065
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