Santer R - Search Results

1

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA. Hoffman TL, et al. Among authors: santer r. Clin Genet. 2007 Jun;71(6):551-7. doi: 10.1111/j.1399-0004.2007.00802.x. Clin Genet. 2007. PMID: 17539904

2

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett MJ, Santer R, Stanley CA. Schmidt-Sommerfeld E, et al. Among authors: santer r. Prog Clin Biol Res. 1992;375:355-62. Prog Clin Biol Res. 1992. PMID: 1438381

3

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

Schmidt-Sommerfeld E, Penn D, Duran M, Bennett MJ, Santer R, Stanley CA. Schmidt-Sommerfeld E, et al. Among authors: santer r. J Pediatr. 1993 May;122(5 Pt 1):708-14. doi: 10.1016/s0022-3476(06)80009-0. J Pediatr. 1993. PMID: 8496747

4

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J. Santer R, et al. Nat Genet. 1997 Nov;17(3):324-6. doi: 10.1038/ng1197-324. Nat Genet. 1997. PMID: 9354798

5

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J. Santer R, et al. Hum Genet. 2002 Jan;110(1):21-9. doi: 10.1007/s00439-001-0638-6. Epub 2001 Nov 17. Hum Genet. 2002. PMID: 11810292

6

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

Santer R, Steinmann B, Schaub J. Santer R, et al. Curr Mol Med. 2002 Mar;2(2):213-27. doi: 10.2174/1566524024605743. Curr Mol Med. 2002. PMID: 11949937 Review.

7

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

Berry GT, Baynes JW, Wells-Knecht KJ, Szwergold BS, Santer R. Berry GT, et al. Among authors: santer r. Mol Genet Metab. 2005 Dec;86(4):473-7. doi: 10.1016/j.ymgme.2005.09.010. Epub 2005 Nov 8. Mol Genet Metab. 2005. PMID: 16288895

8

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

9

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.

10

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.

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