Mayatepek, Ertan

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

Distelmaier, F., Koopman, W. J. H., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E., Willems, P. H. G. M., & Smeitink, J. A. M. (2008) · Brain

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 310

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

Meissner, T., Wendel, U., Burgard, P., Schaetzle, S., & Mayatepek, E. (2003) · European Journal of Endocrinology

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 206

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

Marquard, J., Otter, S., Welters, A., Stirban, A., Fischer, A., Eglinger, J., Herebian, D., Kletke, O., Klemen, M. S., Stožer, A., et al. (2015) · Nature Medicine

Pancreatic function and diabetesDiabetes Treatment and Management

Cited by 161

IL-1RA Antibodies in Myocarditis after SARS-CoV-2 Vaccination

Thurner, L., Kessel, C., Fadle, N., Regitz, E., Seidel, F., Kindermann, I., Lohse, S., Kos, I., Tschöpe, C., Kheiroddin, P., et al. (2022) · New England Journal of Medicine

Viral Infections and Immunology ResearchSARS-CoV-2 and COVID-19 Research

Cited by 83

Neurocognitive outcome in patients with hypertyrosinemia type I after long‐term treatment with NTBC

Thimm, E., Richter‐Werkle, R., Kamp, G., Molke, B., Herebian, D., Klee, D., Mayatepek, E., & Spiekerkoetter, U. (2012) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 79

Newborn Screening for Hepatorenal Tyrosinemia: Tandem Mass Spectrometric Quantification of Succinylacetone

Sander, J., Janzen, N., Peter, M., Sander, S., Steuerwald, U., Holtkamp, U., Schwahn, B., Mayatepek, E., Trefz, F. K., & Das, A. M. (2006) · Clinical Chemistry

Metabolism and Genetic DisordersNeonatal Health and Biochemistry

Cited by 62

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

Thimm, E., Herebian, D., Assmann, B., Klee, D., Mayatepek, E., & Spiekerkoetter, U. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 55

Spectrophotometric Microassay for δ-Aminolevulinate Dehydratase in Dried-Blood Spots as Confirmation for Hereditary Tyrosinemia Type I

Schulze, A., Frommhold, D., Hoffmann, G. F., & Mayatepek, E. (2001) · Clinical Chemistry

Metabolism and Genetic DisordersPorphyrin Metabolism and Disorders

Cited by 37

Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism.

Meissner, T., Friedmann, B., Okun, J. G., Schwab, M. A., Otonkoski, T., Bauer, T., Bärtsch, P., & Mayatepek, E. (2005) · Hormone and Metabolic Research

Pancreatic function and diabetesDiabetes Management and Research

Cited by 33

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C. M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L. A., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

Cited by 31

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

Schlump, J. ‐., Perot, C., Ketteler, K., Schiff, M., Mayatepek, E., Wendel, U., & Spiekerkoetter, U. (2008) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 24

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

Schlump, J.-U., Mayatepek, E., & Spiekerkoetter, U. (2010) · European Journal of Pediatrics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 13