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Year | Number of Results |
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2010 | 1 |
2011 | 1 |
2012 | 2 |
2013 | 1 |
2015 | 1 |
2024 | 0 |
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Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.
Mol Genet Genomic Med. 2015.
PMID: 25629080
Free PMC article.
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Williams EL, Bockenhauer D, van't Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G.
Williams EL, et al.
Nephrol Dial Transplant. 2012 Aug;27(8):3191-5. doi: 10.1093/ndt/gfs039. Epub 2012 Mar 5.
Nephrol Dial Transplant. 2012.
PMID: 22391140
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Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.
Beck BB, et al.
Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11.
Eur J Hum Genet. 2013.
PMID: 22781098
Free PMC article.
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Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, Olson JB, Bergstrahl EJ, Williams HJ, Haley WE, Frishberg Y, Milliner DS.
Monico CG, et al.
Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95. doi: 10.2215/CJN.02760311.
Clin J Am Soc Nephrol. 2011.
PMID: 21896830
Free PMC article.
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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y.
Belostotsky R, et al.
Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023.
Am J Hum Genet. 2010.
PMID: 20797690
Free PMC article.
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