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Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
Santer R, Hillebrand G, Steinmann B, Schaub J. Santer R, et al. Among authors: steinmann b. Gastroenterology. 2003 Jan;124(1):34-9. doi: 10.1053/gast.2003.50009. Gastroenterology. 2003. PMID: 12512027
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. Among authors: steinmann b. Hum Genet. 2002 Jan;110(1):21-9. doi: 10.1007/s00439-001-0638-6. Epub 2001 Nov 17. Hum Genet. 2002. PMID: 11810292
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. Among authors: steinmann b. Eur J Pediatr. 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937. Eur J Pediatr. 1998. PMID: 9809815 Review.
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. Among authors: steinmann b. Nat Genet. 1997 Nov;17(3):324-6. doi: 10.1038/ng1197-324. Nat Genet. 1997. PMID: 9354798
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. Among authors: steinmann b. 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--a congenital defect of facilitative glucose transport.
Santer R, Steinmann B, Schaub J. Santer R, et al. Among authors: steinmann b. Curr Mol Med. 2002 Mar;2(2):213-27. doi: 10.2174/1566524024605743. Curr Mol Med. 2002. PMID: 11949937 Review.
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2.
Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG, Seidman CE. Pollak MR, et al. Among authors: steinmann b. Nat Genet. 1993 Oct;5(2):201-4. doi: 10.1038/ng1093-201. Nat Genet. 1993. PMID: 8252048
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Mutat. 2000 Aug;16(2):176-7. doi: 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10923041
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. Santer R, et al. Among authors: steinmann b. Hum Mutat. 2005 Jun;25(6):594. doi: 10.1002/humu.9343. Hum Mutat. 2005. PMID: 15880727
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M, Schickel J, Gönne Bv, Koch HG, Superti-Furga A, Steinmann B, Deufel T, Harms E. Kiehntopf M, et al. Among authors: steinmann b. Hum Mutat. 2002 Sep;20(3):237. doi: 10.1002/humu.9063. Hum Mutat. 2002. PMID: 12204010
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