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Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels

  • Ute SpiekerkötterEmail author
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Part of the Springer Reference Medizin book series (SRM)

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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Copyright information

© Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature 2019

Authors and Affiliations

  1. 1.Universitätsklinikum Freiburg, Allgemeine Kinder- und JugendmedizinFreiburgDeutschland

Section editors and affiliations

  • Georg. F. Hoffmann
    • 1
  1. 1.Zentrum für Kinder- und JugendmedizinUniversitätsklinikum HeidelbergHeidelbergDeutschland

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