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...

Full description

Saved in:
Bibliographic Details
Main Authors: Bockenhauer, Detlef, Bokenkamp, Arend, van't Hoff, William, Levtchenko, Elena, Kist-van Holthe, Joana E., Tasic, Velibor, Ludwig, Michael
Format: Artigo
Language:Inglês
Published: American Society of Nephrology 2008
Subjects:
Hereditary Disease
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items