Zusammenfassung
Die Störungen der mitochondrialen Fettsäurenoxidation und des Ketonstoffwechsels wurden in den letzten 25 Jahren anhand der zugrunde liegenden Enzymdefekte identifiziert. Es handelt sich in allen Fällen um autosomal-rezessiv vererbte Erkrankungen. Mittlerweile sind mehr als 20 Enzym- und Transportdefekte bekannt.
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Spiekerkötter, U. (2015). Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels. In: Hoffmann, G., Lentze, M., Spranger, J., Zepp, F. (eds) Pädiatrie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54671-6_75-1
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DOI: https://doi.org/10.1007/978-3-642-54671-6_75-1
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Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels- Published:
- 14 February 2019
DOI: https://doi.org/10.1007/978-3-642-54671-6_75-2
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Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels- Published:
- 24 April 2015
DOI: https://doi.org/10.1007/978-3-642-54671-6_75-1