Concepedia

Author

René Santer

Universität HamburgORCID

Also Known As

Etienne Sokal, R Santer, R. SANTER, R. Santer, R., Santer, Rene Santer, René Santer, René Santer, Santer, René

266

Publications

10.6K

Citations

52

H-Index

179

Concepts

All Affiliations

Universität HamburgUniversity Medical Center Hamburg-EppendorfHeidelberg UniversityUniversity Hospital HeidelbergHeinrich Heine University Düsseldorf
RS

About

René Santer is an author at Universität Hamburg specializing in medicine, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

33

61

3.4K

2

Health Sciences

10

10

618

3

Natural Sciences

6

6

684

4

Engineering

2

2

84

5

Arts

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1

50

René Santer

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140

Publications

8.1K

Citations

49

H-Index

YearCitations

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

René Santer, Reinhard Schneppenheim, Anja Dombrowski,

Nature Genetics

1997

332

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg,

The American Journal of Human Genetics

2015

303

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

René Santer, Martina Kinner, C.L. Lassen,

Journal of the American Society of Nephrology

2003

298

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

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas,

Human Mutation

2005

283

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

Ute Spiekerkoetter, Martin Lindner, René Santer,

Journal of Inherited Metabolic Disease

2009

219

von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP

Reinhard Schneppenheim, Ulrich Budde, Florian Oyen,

Blood

2003

216

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald,

Brain

2007

204

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva,

Orphanet Journal of Rare Diseases

2013

185

Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop

Ute Spiekerkoetter, Martin Lindner, René Santer,

Journal of Inherited Metabolic Disease

2009

173

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

René Santer, Sebastian Groth, Martina Kinner,

Human Genetics

2001

170

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