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229 results
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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: schaub j. Gastroenterology. 2003 Jan;124(1):34-9. doi: 10.1053/gast.2003.50009. Gastroenterology. 2003. PMID: 12512027
Molybdenum supplementation in phenylketonuria diets: adequate in early infancy?
Sievers E, Arpe T, Schleyerbach U, Schaub J. Sievers E, et al. Among authors: schaub j. J Pediatr Gastroenterol Nutr. 2000 Jul;31(1):57-62. doi: 10.1097/00005176-200007000-00013. J Pediatr Gastroenterol Nutr. 2000. PMID: 10896072
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. Among authors: schaub j. 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
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: schaub j. Hum Genet. 2002 Jan;110(1):21-9. doi: 10.1007/s00439-001-0638-6. Epub 2001 Nov 17. Hum Genet. 2002. PMID: 11810292
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R. Santer R, et al. Among authors: schaub j. Hum Mutat. 2000 Aug;16(2):177. doi: 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8. Hum Mutat. 2000. PMID: 10923042
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: schaub j. 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. Among authors: schaub j. 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: schaub j. Nat Genet. 1997 Nov;17(3):324-6. doi: 10.1038/ng1197-324. Nat Genet. 1997. PMID: 9354798
Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.
Santer R, Claass A, Krawinkel M, Schaub J, Ruitenbeek W. Santer R, et al. Among authors: schaub j. J Inherit Metab Dis. 1995;18(1):75-6. doi: 10.1007/BF00711377. J Inherit Metab Dis. 1995. PMID: 7623447 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: schaub j. Curr Mol Med. 2002 Mar;2(2):213-27. doi: 10.2174/1566524024605743. Curr Mol Med. 2002. PMID: 11949937 Review.
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