Ertan Mayatepek

Best Publications

• Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

  Andreas Schulze;Martin Lindner;Dirk Kohlmüller;Katharina Olgemöller

  675
  Citations

• Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

  Felix Distelmaier;Felix Distelmaier;Werner J.H. Koopman;Lambertus P. van den Heuvel;Richard J. Rodenburg

  367
  Citations

• Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria

  Joachim Pietz;Roland Kreis;André Rupp;Ertan Mayatepek

  355
  Citations

• Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

  G F Hoffmann;C Charpentier;E Mayatepek;J Mancini

  329
  Citations

• A guide to diagnosis and treatment of Leigh syndrome

  Fabian Baertling;Richard J. T. Rodenburg;Jörg Schaper;Jan A. M. Smeitink

  270
  Citations

• Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic β Cells

  Timo Otonkoski;Hong Jiao;Nina Kaminen-Ahola;Isabel Tapia-Paez

  261
  Citations

• Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism

  A. Schulze;T. Hess;R. Wevers;E. Mayatepek

  236
  Citations

• Long-term follow-up of 114 patients with congenital hyperinsulinism.

  Thomas Meissner;Udo Wendel;Peter Burgard;Silvia Schaetzle

  234
  Citations

• Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

  U. Spiekerkoetter;M. Lindner;R. Santer;M. Grotzke

  227
  Citations

• TGR5 is essential for bile acid-dependent cholangiocyte proliferation in vivo and in vitro

  Maria Reich;Kathleen Deutschmann;Annika Sommerfeld;Caroline Klindt

  214
  Citations

• Dialysis in neonates with inborn errors of metabolism.

  Franz Schaefer;Emine Straube;Jun Oh;Otto Mehls

  202
  Citations

• Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.

  Andreas Schulze;Friedrich Ebinger;Dietz Rating;Ertan Mayatepek

  199
  Citations

• Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.

  Jürgen G. Okun;Friederike Hörster;Lilla M. Farkas;Patrik Feyh

  190
  Citations

• Conjugated bilirubin triggers anemia by inducing erythrocyte death.

  Elisabeth Lang;Sergios Gatidis;Noemi F. Freise;Hans Bock

  184
  Citations

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

  U. Spiekerkoetter;M. Lindner;R. Santer;M. Grotzke

  181
  Citations

• Characterization of pancreatic NMDA receptors as possible drug targets for diabetes treatment

  Jan Marquard;Silke Otter;Alena Welters;Alin Stirban

  179
  Citations

• Physical Exercise-Induced Hyperinsulinemic Hypoglycemia Is an Autosomal-Dominant Trait Characterized by Abnormal Pyruvate-Induced Insulin Release

  Timo Otonkoski;Nina Kaminen;Jarkko Ustinov;Risto Lapatto

  169
  Citations

• NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria.

  Stefan Kölker;Verena Pawlak;Barbara Ahlemeyer;Jürgen G. Okun

  164
  Citations

• Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren–Larsson syndrome

  M.A.A.P. Willemsen;L. Ijlst;P.M. Steijlen;J.J. Rotteveel

  155
  Citations

• Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

  Johannes Zschocke;Jos P N Ruiter;Jochen Brand;Martin Lindner

  150
  Citations