R
René Santer
Researcher at University of Hamburg
Publications - 202
Citations - 8227
René Santer is an academic researcher from University of Hamburg. The author has contributed to research in topics: Internal medicine & Medicine. The author has an hindex of 43, co-authored 179 publications receiving 6918 citations. Previous affiliations of René Santer include Boston Children's Hospital & University of Kiel.
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Journal ArticleDOI
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle,Nathalie Boddaert,Alberto Burlina,Anupam Chakrapani,Marjorie Dixon,Martina Huemer,Daniela Karall,Diego Martinelli,Pablo Sanjurjo Crespo,René Santer,Aude Servais,Vassili Valayannopoulos,Martin Lindner,Vicente Rubio,Carlo Dionisi-Vici +14 more
TL;DR: These guidelines aim at providing a trans-European consensus to guide practitioners, set standards of care and help awareness campaigns, and help to harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.
Journal Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary
Salvatore DiMauro,Guido Davidzon,Michio Hirano,Rita Horvath,Gavin Hudson,Gianfrancesco Ferrari,Nancy Fütterer,Sofia Ahola,Eleonora Lamantea,Holger Prokisch,Hanns Lochmüller,Robert McFarland,Venkateswaran Ramesh,Thomas Klopstock,Peter Freisinger,Fabrizio Salvi,Johannes A Mayr,René Santer,Marketa Tesarova,Jiri Zeman,Bjarne Udd,Robert W. Taylor,Douglass M. Turnbull,Michael G. Hanna,Doreen Fialho,Anu Suomalainen,Massimo Zeviani,Patrick F. Chinnery +27 more
TL;DR: In this article, DNA sequence changes were identified, including 2 predicted to alter a splice site, I predicted to cause a premature stop codon and 13 predicted to causing novel amino acid substitutions.
Journal ArticleDOI
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
Gianfrancesco Ferrari,Eleonora Lamantea,Alice Donati,Massimiliano Filosto,Egill Briem,Franco Carrara,Rossella Parini,Alessandro Simonati,René Santer,Massimo Zeviani +9 more
TL;DR: Analysis of POLG1, the gene encoding the catalytic subunit of mitochondrial DNA polymerase, revealed that all the patients carried different allelic mutations in this gene, indicating that Alpers' syndrome is a major disease gene in mitochondrial disorders.
Journal ArticleDOI
Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria
René Santer,Martina Kinner,C.L. Lassen,Reinhard Schneppenheim,Paul Eggert,Martin Bald,Johannes Brodehl,Markus Daschner,Jochen H. H. Ehrich,Markus J. Kemper,Salvatore Li Volti,Thomas J. Neuhaus,Flemming Skovby,Peter G.F. Swift,Jürgen Schaub,Dan Klaerke +15 more
TL;DR: It is concluded that SGLT2 plays an important role in renal tubular glucose reabsorption and Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance.
Journal ArticleDOI
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
René Santer,Reinhard Schneppenheim,Anja Dombrowski,Hermann Götze,Beat Steinmann,Jürgen Schaub +5 more
TL;DR: Mutations in the gene encoding the facilitative glucose transporter 2 (GLUT2) in three FBS families, including the original patient described in 1949, are reported, indicating that GLUT2 mutations are probably the cause of FBS.