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René Santer

Universität Hamburg(DE)University Medical Center Hamburg-Eppendorf(DE)

Publications by Year

Research Areas

Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Mitochondrial Function and Pathology, Amino Acid Enzymes and Metabolism, Diet and metabolism studies

Most-Cited Works

→ Suggested guidelines for the diagnosis and management of urea cycle disorders(2012)619 cited
→ Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision(2019)449 cited
→ Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome(1997)334 cited
→ Familial Renal Glucosuria and SGLT2(2009)333 cited
→ SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation(2015)304 cited
→ Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria(2003)298 cited

→ High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome(2005)

285 cited

→ Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop(2009)222 cited

→ von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP(2003)216 cited

→ SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness(2007)205 cited