title: Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.
abstract: This is the case of a 41 year old man, suffering general weakness and elevated liver enzymes, sensitive to a treatment with riboflavin and coenzyme Q(10). Tandem mass spectroscopy and molecular analysis reveal a multiple acyl-CoA-dehydrogenase deficiency (MADD) with two novel heterozygote missense mutations of the EFTDH gene.
authors: Department of Neurology, University of Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany. alexandra.laemmer@uk-erlangen.de
authors: A B
authors: AB
authors: Lämmer
authors: B
authors: B
authors: Rolinski
authors: U
authors: U
authors: Ahting
authors: D
authors: D
authors: Heuss