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Emergency Treatments

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Inborn Metabolic Diseases

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Zusammenfassung

As soon as the diagnosis of a metabolic disorder is suspected, a plan for its emergency management should be made. This chapter focuses on the main clinical presentations in neonates, children and adults with those inborn errors of metabolism for which emergency treatment may be life saving and outlines the first steps of such treatment up to when the exact diagnosis is known.

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Author information

Authors and Affiliations

  1. Service de Neurologie Pédiatrique et des Maladies Métaboliques Reference Center for Inborn Errors of Metabolism, Hôpital Robert Débre, 48, Boulevard Sécurier, 75019, Paris, France

    Manuel Schiff

  2. Neurometabolic unit, University Pierre and Marie Curie, Department of Genetics, La Pitié-Salpêtrière Hospital, 47 Bd de l’Hôpital, 75013, Paris, France

    Fanny Mochel

  3. Division of Metabolism, Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy

    Carlo Dionisi-Vici

Authors
  1. Manuel Schiff
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  2. Fanny Mochel
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  3. Carlo Dionisi-Vici
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Corresponding authors

Correspondence to Manuel Schiff , Fanny Mochel or Carlo Dionisi-Vici .

Editor information

Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Schiff, M., Mochel, F., Dionisi-Vici, C. (2016). Emergency Treatments. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_4

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

  • Online ISBN: 978-3-662-49771-5

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