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R. Santer

Brain : a journal of neurology, Orphanet Journal of Rare Diseases, Journal of Inherited Metabolic Disease, American Society of Nephrology. Clinical Journal, Human Mutation, American Journal of Human Genetics, Blood, Nature Genetics Show more
11
Role
Title
Level Year L/R
🐜 Suggested guidelines for the diagnosis and management of urea cycle disorders
15 auth. J. Häberle, N. Boddaert, A. Burlina, A. Chakrapani, M. Dixon, M. Huemer, D. Karall, D. Martinelli, P. S. Crespo, R. Santer, ... A. Servais, V. Valayannopoulos, M. Lindner, V. Rubio, C. Dionisi-Vici 		9 2012
9
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🐜 Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary
28 auth. S. Dimauro, G. Davidzon, M. Hirano, R. Horvath, G. Hudson, G. Ferrari, N. Fütterer, S. Ahola, E. Lamantea, H. Prokisch, H. Lochmüller, R. Mcfarland, V. Ramesh, T. Klopstock, P. Freisinger, ... F. Salvi, J. Mayr, R. Santer, M. Tesařová, J. Zeman, B. Udd, Robert W. Taylor, D. Turnbull, M. Hanna, D. Fialho, A. Suomalainen, M. Zeviani, P. Chinnery 		8 2006
8
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🐜 Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
16 auth. J. Häberle, A. Burlina, A. Chakrapani, M. Dixon, D. Karall, M. Lindner, H. Mandel, D. Martinelli, G. Pintos-Morell, R. Santer, ... A. Skouma, A. Servais, Galit Tal, V. Rubio, M. Huemer, C. Dionisi-Vici 		8 2019
8
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🦁 Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
R. Santer, J. Calado 		8 2010
8
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🐜 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
10 auth. G. Ferrari, E. Lamantea, A. Donati, M. Filosto, Egill Briem, F. Carrara, ... R. Parini, A. Simonati, R. Santer, M. Zeviani 		8 2005
8
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🐜 High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome
12 auth. S. Aretz, D. Stienen, S. Uhlhaas, S. Loff, W. Back, C. Pagenstecher, ... D. R. Mcleod, G. Graham, E. Mangold, R. Santer, P. Propping, W. Friedl 		8 2005
8
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🐜 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
25 auth. R. Horvath, G. Hudson, G. Ferrari, N. Fütterer, S. Ahola, E. Lamantea, H. Prokisch, Hanns Lochmüller, R. Mcfarland, V. Ramesh, T. Klopstock, P. Freisinger, F. Salvi, J. Mayr, R. Santer, ... M. Tesařová, J. Zeman, B. Udd, Robert W. Taylor, D. Turnbull, M. Hanna, D. Fialho, A. Suomalainen, M. Zeviani, P. Chinnery 		7 2006
7
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🐜 SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
25 auth. Julien H. Park, Max Hogrebe, M. Grüneberg, Ingrid DuChesne, Ava L. von der Heiden, J. Reunert, K. Schlingmann, K. Boycott, C. Beaulieu, A. Mhanni, A. Innes, K. Hörtnagel, S. Biskup, E. Gleixner, G. Kurlemann, ... B. Fiedler, H. Omran, F. Rutsch, Y. Wada, K. Tsiakas, R. Santer, D. Nebert, D. Nebert, S. Rust, T. Marquardt 		7 2015
7
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🐜 von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
15 auth. R. Schneppenheim, U. Budde, F. Oyen, D. Angerhaus, V. Aumann, E. Drewke, W. Hassenpflug, J. Häberle, K. Kentouche, E. Kohne, ... K. Kurnik, D. Mueller-Wiefel, T. Obser, R. Santer, K. Sykora 		7 2003
7
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🦁 Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
R. Santer, R. Schneppenheim, A. Dombrowski, H. Götze, B. Steinmann, J. Schaub 		7 1997
7
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🐜 SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
19 auth. R. Carrozzo, C. Dionisi-Vici, U. Steuerwald, S. Lucioli, F. Deodato, Sivia Di Giandomenico, E. Bertini, B. Franke, L. Kluijtmans, M. C. Meschini, ... C. Rizzo, F. Piemonte, R. Rodenburg, R. Santer, F. Santorelli, A. van Rooij, Diana G M Vermunt-de Koning, E. Morava, R. Wevers 		7 2007
7
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