Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

Background and objectives: Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalci...

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Bibliografiske detaljer
Main Authors: Bockenhauer, Detlef, Bokenkamp, Arend, van't Hoff, William, Levtchenko, Elena, Kist-van Holthe, Joana E., Tasic, Velibor, Ludwig, Michael
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2008
Fag:
Hereditary Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2518783/
https://ncbi.nlm.nih.gov/pubmed/18480301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.00520108
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