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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

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Bibliographische Detailangaben
Hauptverfasser: Huemer, Martina (VerfasserIn) , Ebrahimi-Fakhari, Darius (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: September 2015
In: Journal of inherited metabolic disease
Year: 2015, Jahrgang: 38, Heft: 5, Pages: 905-914
ISSN:1573-2665
DOI:10.1007/s10545-015-9836-6
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1007/s10545-015-9836-6
Volltext
Verfasserangaben:Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

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