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Clinical Approach to Inborn Errors of Metabolism in Pediatrics

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has enabled presymptomatic diagnosis for some IEM. However, for most, neonatal screening tests are either too slow, expensive or unreliable and, as a consequence, a simple method of clinical screening is mandatory before initiating sophisticated biochemical investigations. This Chapter gives an overview of clinical clues to the diagnosis of IEM in pediatrics.

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Author information

Authors and Affiliations

  1. 22 rue Juliette Lamber, 75017, Paris, USA

    Jean-Marie Saudubray

  2. Servicio de Neurologia, Hospital Sant Joan de Deu and CIBERER-ISCIII, Passeig Sant Joan de Deu 2, 8950, Barcelona, Spain

    Angels Garcia-Cazorla

Authors
  1. Jean-Marie Saudubray
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  2. Angels Garcia-Cazorla
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Corresponding authors

Correspondence to Jean-Marie Saudubray or Angels Garcia-Cazorla .

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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Saudubray, JM., Garcia-Cazorla, A. (2016). Clinical Approach to Inborn Errors of Metabolism in Pediatrics. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_1

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_1

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

  • Online ISBN: 978-3-662-49771-5

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