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2020 | OriginalPaper | Buchkapitel

72. Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels

verfasst von : Ute Spiekerkötter

Erschienen in: Pädiatrie

Verlag: Springer Berlin Heidelberg

Zusammenfassung

Den Störungen der mitochondrialen Fettsäurenoxidation und des Ketonstoffwechsels liegen autosomal-rezessiv vererbte Enzym- oder Transporterdefekte zugrunde. Erst in den letzten 25 Jahren wurden viele dieser inzwischen mehr als 20 Defekte erstmals identifiziert. Angeborene Störungen des Riboflavin-Metabolismus gehören mittlerweile auch zu den Störungen der Fettsäurenoxidation.
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Metadaten
Titel
Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels
verfasst von
Ute Spiekerkötter
Copyright-Jahr
2020
Verlag
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/978-3-662-60300-0_75

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