Renal manifestations of Dent disease and Lowe syndrome.
Renal manifestations of Dent disease and Lowe syndrome. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Department of Pediatrics, Gachon University of ...
http://www.ncbi.nlm.nih.gov/pubmed/18038239...
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Lowe syndrome
In patients with Dent's disease, a rare X-linked renal proximal .... de-novo X/ autosome translocation in a girl with manifestation of Lowe syndrome. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=15...
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Dent Disease with mutations in OCRL1. [Am J Hum Genet. 2005 ...
Novel OCRL1 mutations in patients with the phenotype of Dent disease. [Am J Kidney Dis. 2006]; Renal manifestations of Dent disease and Lowe syndrome. ...
http://view.ncbi.nlm.nih.gov/pubmed/15627218...
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(OCRL[TIAB]) OR (OCRL1[TIAB]) AND ((Genes[MH]) OR (Genetic ...
Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol. 2008 Feb;23(2):243-9. Epub 2007 Nov 24. PMID: 18038239 [PubMed - indexed for ...
http://ghr.nlm.nih.gov/exit?to=www.ncbi.nlm.nih.gov&uid=7bH4...
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Dent Disease with Mutations in OCRL1
The predominant renal manifestation of both Lowe syndrome and Dent disease is Fanconi syndrome, particularly LMW proteinuria but also other abnormalities in
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http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=11...
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AJHG - Dent Disease with Mutations in OCRL1
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)62577-4...
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BioPortfolio - oculocerebrorenal syndrome
BioPortfolio - Renal manifestations of Dent disease and Lowe syndrome BioPortfolio - Oculocerebrorenal Syndrome Tigroid pattern on magnetic resonance
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http://www.bioportfolio.com/search/oculocerebrorenal_syndrom...
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Lowe Syndrome -- GeneReviews -- NCBI Bookshelf
12 Mar 2008 ... However, the LMW proteinuria seems to be a more prominent feature of renal tubular dysfunction in Lowe syndrome and Dent disease than in ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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BioPortfolio - Oculocerebrorenal Syndrome
Tigroid pattern on magnetic resonance imaging in Lowe syndrome. ... manifestations of Dent disease and Lowe syndrome | Renal manifestations of Dent
disease ...
http://www.bioportfolio.com/indepth/Oculocerebrorenal_Syndro...
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Kidney International - Table 1 for article: Genetics of ...
Lowe's syndrome (oculo-cerebro-renal syndrome) Dent's disease (2), 309000 ... Convulsions, tetany, chondrocalcinosis, neuromuscular manifestations ...
http://www.nature.com/ki/journal/v72/n9/fig_tab/5002441t1.ht...
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