René Santer

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

René Santer, Reinhard Schneppenheim, Anja Dombrowski et al. · Nature Genetics · 1997 · 335 citations

Life Sciences, Genetics, Molecular Genetics +13

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg et al. · The American Journal of Human Genetics · 2015 · 312 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

René Santer, Martina Kinner, C.L. Lassen et al. · Journal of the American Society of Nephrology · 2003 · 300 citations

Medicine, Genetics, Molecular Genetics +17

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas et al. · Human Mutation · 2005 · 285 citations

Life Sciences, Genetics, Molecular Genetics +17

Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop

Ute Spiekerkoetter, Martin Lindner, René Santer et al. · Journal of Inherited Metabolic Disease · 2009 · 223 citations

Life Sciences, Biochemistry, Metabolism +11