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Mass Spectrometry and Stable Isotopes

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Inborn Metabolic Diseases

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Summary

Investigation of inherited metabolic disorders requires methods which have the ability to apply to a vast array of metabolites of different chemical classes, unambiguously identify known as well as previously unknown metabolites, precisely quantify the substrates in question in a variety of body fluids, and quantitfy the movement (kinetics) of these materials along known biochemical pathways both within tissues and between organ systems via the blood stream. Furthermore, since most investigations of inborn errors take place in infants and young children, the methodological approaches should also be non- or only minimally invasive and require only small blood samples. The combined use of mass spectrometry and stable isotope tracers satisfies all of these requirements and is the most sensitive, specific, general analytic approach available to the biomedical investigator today.

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Authors
  1. D. M. Bier
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

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© 1990 Springer-Verlag Berlin Heidelberg

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Bier, D.M. (1990). Mass Spectrometry and Stable Isotopes. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_5

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  • DOI: https://doi.org/10.1007/978-3-662-02613-7_5

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02615-1

  • Online ISBN: 978-3-662-02613-7

  • eBook Packages: Springer Book Archive

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