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 · 332 citations

Metabolic Syndrome, Mendelian Disorder, Health Sciences +10

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 · 303 citations · Full text

Slc39a8 Deficiency, Biochemistry, Natural Sciences +3

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 · 298 citations

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

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas et al. · Human Mutation · 2005 · 283 citations

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 · 219 citations