Boris Gebhardt

Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation

Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein et al. · The American Journal of Human Genetics · 2007 · 171 citations · Full text

Life Sciences, Biochemistry, Physiology +16

Febrile Infection-Related Epilepsy Syndrome without Detectable Autoantibodies and Response to Immunotherapy: A Case Series and Discussion of Epileptogenesis in FIRES

Andreas van Baalen, M Häusler, Barbara Plecko et al. · Neuropediatrics · 2012 · 85 citations

Medicine, Neurology, Pediatrics +17

<i>N</i>‐Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia

Boris Gebhardt, S. Dittrich, S Parbel et al. · Journal of Inherited Metabolic Disease · 2005 · 68 citations

Medicine, Pharmacology, Pharmacotherapy +2

N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

Boris Gebhardt, S Vlaho, Doris Fischer et al. · Molecular Genetics and Metabolism · 2003 · 58 citations

Life Sciences, Biochemistry, Pharmacology +8

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Matthias R. Baumgartner, Maria Fernanda Dantas, Terttu Suormala et al. · The American Journal of Human Genetics · 2004 · 53 citations · Full text

Life Sciences, Biochemistry, Genetics +15