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Browsing by Author Mayatepek, E.

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Showing results 1 to 23 of 23
Full TextIssue DateTitleAuthor(s)
2011Cell biological consequences of Leigh disease.Distelmaier, F.; Willems, P.H.; Smeitink, J.A.; Koopman, W.J.; Mayatepek, E.
2010Clinical spectrum of the pseudotumor cerebri complex in children.Tibussek, D.; Schneider, D.T.; Meulebroecke, N. van de; Turowski, B.; Messing-Juenger, M., et al
2010Blue native electrophoresis to study mitochondrial complex I in C. elegans.Ecker, D. van den; Brand, M.A.M. van den; Bossinger, O.; Mayatepek, E.; Nijtmans, L.G.J., et al
2009Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.Distelmaier, F.; Koopman, W.J.H.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Mayatepek, E., et al
2009C. elegans ATAD-3 is essential for mitochondrial activity and development.Hoffmann, M.; Bellance, N.; Rossignol, R.; Koopman, W.J.H.; Willems, P.H.G.M., et al
2009The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.Distelmaier, F.; Visch, H.J.; Smeitink, J.A.M.; Mayatepek, E.; Koopman, W.J.H., et al
2008Probable idiopathic intracranial hypertension in pre-pubertal children.Distelmaier, F.; Mayatepek, E.; Tibussek, D.
2008Life cell quantification of mitochondrial membrane potential at the single organelle level.Distelmaier, F.; Koopman, W.J.; Testa, E.R.; Jong, AS de; Swarts, H.G.P., et al
2007Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology.Distelmaier, F.; Gobel, U.; Meulebroecke, N. van de; Mayatepek, E.; Rosenbaum, T., et al
2007"How much brain is really necessary?" A case of complex cerebral malformation and its clinical course.Distelmaier, F.; Richter-Werkle, R.; Schaper, J.; Messing-Juenger, M.; Mayatepek, E., et al
2007Seasonal variation and atypical presentation of idiopathic intracranial hypertension in pre-pubertal children.Distelmaier, F.; Tibussek, D.; Schneider, D.T.; Mayatepek, E.
2007Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up.Distelmaier, F.; Fahsold, R.; Reifenberger, G.; Messing-Juenger, M.; Schaper, J., et al
2007Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency.Lohmeier, K.; Distelmaier, F.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Smeitink, J.A.M., et al
2007Cystic renal dysplasia as a leading sign of inherited metabolic disease.Distelmaier, F.; Vogel, M.; Spiekerkotter, U.; Gempel, K.; Klee, D., et al
2006Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.Assmann, B.; Gohlich, G.; Baethmann, M.; Wevers, R.A.; Gennip, A.H. van, et al
2006Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.Kuilenburg, A.B.P. van; Meinsma, R.; Assman, B.; Hoffman, G.F.; Voit, T., et al
2006Pseudotumor cerebri as an important differential diagnosis of papilledema in children.Distelmaier, F.; Sengler, U.; Messing-Juenger, M.; Assmann, B.; Mayatepek, E., et al
2006Status epilepticus due to attempted suicide with isoniazid.Tibussek, D.; Mayatepek, E.; Distelmaier, F.; Rosenbaum, T.
2006Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay.Distelmaier, F.; Janssen, G.; Mayatepek, E.; Schaper, J.; Gobel, U., et al
2006Antiepileptic treatment in paediatric oncology--an interdisciplinary challenge.Tibussek, D.; Distelmaier, F.; Schonberger, H.J.; Gobel, U.; Mayatepek, E.
2004beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.Kuilenburg, A.B.P. van; Meinsma, R.; Beke, E.; Assmann, B.; Ribes, A., et al
1997Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency : diagnostic tools for a new inborn error of metabolismSchulze, A.; Hess, T.; Wevers, R.; Mayatepek, E.; Bachert, P., et al
1997Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrinsJaeken, J.; Artigas, J.; Barone, R.; Fiumara, A.; Koning, T.J., et al
Showing results 1 to 23 of 23

 

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