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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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| Główni autorzy: | , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society of Nephrology
2008
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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