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E. Mayatepek

Pediatrics, Brain : a journal of neurology, Journal of Clinical Investigation, Journal of Neurology Neurosurgery & Psychiatry, American Journal of Human Genetics, European Journal of Endocrinology, Jornal de Pediatria, Gut, Journal of Biological Chemistry, Molecular Genetics and Metabolism Show more
11
Role
Title
Level Year L/R
🐬 Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
A. Schulze, M. Lindner, D. Kohlmüller, Katharina Olgemöller, E. Mayatepek, G. Hoffmann 		8 2003
8
🐬
🐜 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
7 auth. F. Distelmaier, W. Koopman, L. P. Van den Heuvel, R. Rodenburg, E. Mayatepek, P. Willems, ... J. Smeitink 		8 2008
8
🐜
🐜 Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria.
7 auth. J. Pietz, R. Kreis, A. Rupp, E. Mayatepek, D. Rating, C. Boesch, ... H. Bremer 		8 1999
8
🐜
🐜 Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
14 auth. G. Hoffmann, C. Charpentier, E. Mayatepek, J. Mancini, M. Leichsenring, K. Gibson, P. Divry, M. Hřebíček, Willy Lehnert, K. Sartor, ... F. Trefz, D. Rating, H. Bremer, W. Nyhan 		7 1993
7
🐜
🐜 A guide to diagnosis and treatment of Leigh syndrome
8 auth. F. Baertling, R. Rodenburg, J. Schaper, J. Smeitink, W. Koopman, E. Mayatepek, ... E. Morava, F. Distelmaier 		7 2013
7
🐜
🐜 Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.
14 auth. T. Otonkoski, H. Jiao, N. Kaminen-Ahola, I. Tapia-Páez, M. S. Ullah, L. Parton, F. Schuit, R. Quintens, I. Sipilä, E. Mayatepek, ... T. Meissner, A. Halestrap, G. Rutter, J. Kere 		7 2007
7
🐜
🐢 Long-term follow-up of 114 patients with congenital hyperinsulinism.
T. Meissner, U. Wendel, P. Burgard, Silvia Schaetzle, E. Mayatepek 		7 2003
7
🐢
🐜 Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
10 auth. A. Schulze, Tom Hess, R. Wevers, E. Mayatepek, P. Bachert, B. Marescau, ... M. Knopp, P. D. de Deyn, H. Bremer, D. Rating 		7 1997
7
🐜
🐜 TGR5 is essential for bile acid-dependent cholangiocyte proliferation in vivo and in vitro
12 auth. M. Reich, K. Deutschmann, Annika Sommerfeld, C. Klindt, S. Kluge, R. Kubitz, ... C. Ullmer, W. Knoefel, D. Herebian, E. Mayatepek, D. Häussinger, V. Keitel 		7 2015
7
🐜
🐜 Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*
10 auth. J. Okun, F. Hörster, L. Farkas, P. Feyh, A. Hinz, S. Sauer, ... G. Hoffmann, K. Unsicker, E. Mayatepek, S. Kölker 		7 2002
7
🐜
🐢 Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
A. Schulze, F. Ebinger, D. Rating, E. Mayatepek 		7 2001
7
🐢