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Inherited Metabolic Diseases pp 263–281Cite as

Biochemical Studies

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Keywords

  • Ketone Body
  • Maple Syrup Urine Disease
  • Orotic Acid
  • Maple Syrup Urine Disease
  • Organic Aciduria

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Key References

  • Blau N, Duran M, Blaskovics ME, Gibson KM (eds) (2003) Physician's guide to the laboratory diagnosis of metabolic diseases, 2nd edn. Springer, Berlin

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  • Blau N, Hoffmann GF, Leonard J, Clarke JTR (eds) (2005) Physician's guide to the treatment and follow-up of metabolic diseases. Springer, Berlin

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  • Hoffmann GF, Surtees RAH, Wevers RA (1998) Investigations of cerebrospinal fluid for neurometabolic disorders. Neuropediatrics 29:59–71

    CrossRef  PubMed  CAS  Google Scholar 

  • Hoffmann GF, Nyhan WL, Zschocke J, Kahler SG, Mayatepek E (2002) Inherited metabolic diseases — biochemical studies. Core handbooks in pediatrics, Lippincott Williams & Wilkins, Philadelphia, pp 95–109

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  • Hommes FA (ed) (1991) Techniques in diagnostic human biochemical laboratories: a laboratory manual. Wiley-Liss, New York

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  • Nyhan WL, Barshop BA, Ozand PT (2005) Atlas of metabolic diseases, 2nd edn. Hodder Arnold, London

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Biological Sciences, Michigan Technological University, Dow 740, ESE 1400, Townsend Drive, Houghton, MI, 49931, USA

    K. M. Gibson

  2. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands

    C. Jakobs

Authors
  1. K. M. Gibson
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  2. C. Jakobs
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Corresponding author

Correspondence to K. M. Gibson .

Editor information

Editors and Affiliations

  1. University Children's Hospital, Ruprecht-Karls-University, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Georg F. Hoffmann

  2. Divisions of Human Genetics and Clinical Genetics, Medical University Innsbruck, Schöpfstr. 41, Innsbruck, 6020, Austria

    Johannes Zschocke (Professor of Human Genetics) (Professor of Human Genetics)

  3. San Diego School of Medicine, Department of Pediatrics, University of California, 9500 Gilman Drive, La Jolla, CA, 92093, USA

    William L. Nyhan

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Gibson, K.M., Jakobs, C. (2010). Biochemical Studies. In: Hoffmann, G.F., Zschocke, J., Nyhan, W.L. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_28

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  • DOI: https://doi.org/10.1007/978-3-540-74723-9_28

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-74722-2

  • Online ISBN: 978-3-540-74723-9

  • eBook Packages: MedicineMedicine (R0)

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