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Journal Abstract Search

238 related items for PubMed ID: 8843467

  • 1. Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.
    Danpure CJ, Rumsby G.
    Prenat Diagn; 1996 Jul; 16(7):587-98. PubMed ID: 8843467
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  • 2. Experience in prenatal diagnosis of primary hyperoxaluria type 1.
    Rumsby G.
    J Nephrol; 1998 Jul; 11 Suppl 1():13-4. PubMed ID: 9604802
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  • 3. Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.
    Rumsby G.
    Mol Urol; 2000 Jul; 4(4):349-54. PubMed ID: 11156702
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  • 5. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
    Coulter-Mackie MB, Rumsby G.
    Mol Genet Metab; 2004 Jul; 83(1-2):38-46. PubMed ID: 15464418
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  • 8. Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
    Coulter-Mackie MB, Rumsby G, Applegarth DA, Toone JR.
    Mol Genet Metab; 2001 Nov; 74(3):314-21. PubMed ID: 11708860
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  • 9. Molecular aetiology of primary hyperoxaluria type 1.
    Danpure CJ.
    Nephron Exp Nephrol; 2004 Nov; 98(2):e39-44. PubMed ID: 15499210
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  • 15. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
    Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS.
    J Am Soc Nephrol; 2007 Jun; 18(6):1905-14. PubMed ID: 17460142
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  • 16. A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
    Williams EL, Kemper MJ, Rumsby G.
    Am J Kidney Dis; 2006 Sep; 48(3):481-3. PubMed ID: 16931222
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  • 17. Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
    Coulter-Mackie MB, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance H.
    Clin Biochem; 2008 May; 41(7-8):598-602. PubMed ID: 18282470
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  • 19. Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
    Danpure CJ.
    Am J Nephrol; 2005 May; 25(3):303-10. PubMed ID: 15961951
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  • 20. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
    Santana A, Salido E, Torres A, Shapiro LJ.
    Proc Natl Acad Sci U S A; 2003 Jun 10; 100(12):7277-82. PubMed ID: 12777626
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