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Neuropediatrics|May 1, 1999
A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorderE Mayatepek, M Lindner, R Zelezny, et al.Pediatric Research|December 5, 2000
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolismJ Zschocke, J P Ruiter, J Brand, et al.European Journal of Pediatrics|May 1, 1996
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?E Mayatepek, G F Hoffmann, R Baumgartner, et al.Neurology|August 23, 2006
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiencyA Schulze, G F Hoffmann, P Bachert, et al.Neuropediatrics|March 1, 2002
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestationsB Assmann, R Hackler, V Peters, et al.European Journal of Pediatrics|March 27, 1999
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycleE MayatepekEuropean Journal of Pediatrics|November 18, 2000
Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseasesE MayatepekHuman Genetics|August 2, 2001
Genetic basis of mitochondrial HMG-CoA synthase deficiencyR Aledo, J Zschocke, J Pié, et al.Journal of the Neurological Sciences|February 13, 2001
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndromeM A Willemsen, J J Rotteveel, J G de Jong, et al.Pediatrics|May 1, 1993
Clinical and biochemical phenotype in 11 patients with mevalonic aciduriaG F Hoffmann, C Charpentier, E Mayatepek, et al.Pageof 28