PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunctional enzyme causing a mitochondrial disorder by Freisinger, P, Haack, T.B, Kölker, S, Schülke-Gerstenfeld, M, Mayr, J, Klopstock, T, Rodenburg, R, Trollmann, R, Nuoffer, J.M, Sperl, W, Taylpr, R, Krägeloh-Mann, I, Meitinger, T, Prokisch, H

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