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Long-term outcome of renal glucosuria type 0: the original patient and his natural history.
Scholl-Bürgi S, Santer R, Ehrich JH. Scholl-Bürgi S, et al. Among authors: santer r. Nephrol Dial Transplant. 2004 Sep;19(9):2394-6. doi: 10.1093/ndt/gfh366. Nephrol Dial Transplant. 2004. PMID: 15299100 No abstract available.
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado J, Sznajer Y, Metzger D, Rita A, Hogan MC, Kattamis A, Scharf M, Tasic V, Greil J, Brinkert F, Kemper MJ, Santer R. Calado J, et al. Among authors: santer r. Nephrol Dial Transplant. 2008 Dec;23(12):3874-9. doi: 10.1093/ndt/gfn386. Epub 2008 Jul 12. Nephrol Dial Transplant. 2008. PMID: 18622023
The boy with massive glucosuria.
Sarkissian A, Santer R, Steinmann B, Amaryan G, Leumann E. Sarkissian A, et al. Among authors: santer r. Nephrol Dial Transplant. 2004 May;19(5):1319-20. doi: 10.1093/ndt/gfh088. Nephrol Dial Transplant. 2004. PMID: 15102974 No abstract available.
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism.
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J. Santer R, et al. J Inherit Metab Dis. 1998 Jun;21(3):191-4. doi: 10.1023/a:1005379013406. J Inherit Metab Dis. 1998. PMID: 9686354 No abstract available.
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Santer R, et al. Eur J Pediatr. 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937. Eur J Pediatr. 1998. PMID: 9809815 Review.
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M, Brodehl J, Daschner M, Ehrich JH, Kemper M, Li Volti S, Neuhaus T, Skovby F, Swift PG, Schaub J, Klaerke D. Santer R, et al. J Am Soc Nephrol. 2003 Nov;14(11):2873-82. doi: 10.1097/01.asn.0000092790.89332.d2. J Am Soc Nephrol. 2003. PMID: 14569097
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
Santer R, Calado J. Santer R, et al. Clin J Am Soc Nephrol. 2010 Jan;5(1):133-41. doi: 10.2215/CJN.04010609. Epub 2009 Nov 5. Clin J Am Soc Nephrol. 2010. PMID: 19965550 Review.
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.
Coady MJ, El Tarazi A, Santer R, Bissonnette P, Sasseville LJ, Calado J, Lussier Y, Dumayne C, Bichet DG, Lapointe JY. Coady MJ, et al. Among authors: santer r. J Am Soc Nephrol. 2017 Jan;28(1):85-93. doi: 10.1681/ASN.2015111282. Epub 2016 Jun 10. J Am Soc Nephrol. 2017. PMID: 27288013 Free PMC article.
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Grünert SC, et al. Among authors: santer r. Mol Genet Metab. 2012 Mar;105(3):433-7. doi: 10.1016/j.ymgme.2011.11.200. Epub 2011 Dec 8. Mol Genet Metab. 2012. PMID: 22214819
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.
Gramer G, Wolf NI, Vater D, Bast T, Santer R, Kamsteeg EJ, Wevers RA, Ebinger F. Gramer G, et al. Among authors: santer r. Neuropediatrics. 2012 Jun;43(3):168-71. doi: 10.1055/s-0032-1315433. Epub 2012 May 23. Neuropediatrics. 2012. PMID: 22622956
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