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Emergency Treatments

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Inborn Metabolic Diseases

Abstract

As soon as the diagnosis of a metabolic disorder is suspected, a plan for its emergency management should be made. As stated in ► Chapter 1, both the presentation and the management depend mainly on the pathophysiology involved. This chapter focuses on the main clinical presentations in neonates and children 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. The subsequent management of patients is addressed in the specific chapters.

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Author information

Authors and Affiliations

  1. Division of Metabolism, Bambino Gesu Hospital, Piazza S Onofrio 4, 00165, Rome, Italy

    Carlo Dionisi-Vici

  2. Service de Neurologie et Maladies Métaboliques, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019, Paris, France

    Hélène Ogier de Baulny

Authors
  1. Carlo Dionisi-Vici
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  2. Hélène Ogier de Baulny
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Editor information

Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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© 2012 Springer-Verlag Berlin Heidelberg

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Dionisi-Vici, C., Ogier de Baulny, H. (2012). Emergency Treatments. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_5

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_5

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

  • eBook Packages: MedicineMedicine (R0)

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