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Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

  • Book
  • © 2003

Overview

Editors:
  1. Nenad Blau

    1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zürich, Switzerland

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  2. Marinus Duran

    1. Dept. of Pediatrics and Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands

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  3. Milan E. Blaskovics

    1. Los Angeles, USA

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  4. K. Michael Gibson

    1. Biochemical Genetics Laboratory Dept. of Molecular and Med. Genetics, Oregon Health & Science University, Portland, USA

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  • A one step resource
  • Provides nomenclature for each disorder
  • Includes tables of signs and symptoms
  • Reference and pathological values for all parameters relevant to the diagnosis
  • Preconditions, material, handling, and pitfalls
  • Provides prenatal diagnosis and outline for urgent treatment before a diagnosis is established
  • Includes supplementary material: sn.pub/extras

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Table of contents (41 chapters)

  1. Front Matter

    Pages I-XXXVII
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  2. Approach to Diagnosis

    1. Front Matter

      Pages 1-1
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    2. Simple Tests in Urine and Blood

      • Nenad Blau, Milan E. Blaskovics, Marinus Duran
      Pages 3-10

    3. Amino Acid Analysis

      • Vivian E. Shih
      Pages 11-26

    4. Organic Acid Analysis

      • Georg F. Hoffmann, Patrik Feyh
      Pages 27-44

    5. Miscellaneous Analyses

      • Marinus Duran
      Pages 45-55

    6. Tandem Mass Spectrometry in Clinical Diagnosis

      • David S. Millington
      Pages 57-75

    7. Proton NMR Spectroscopy of Body Fluids

      • Ron Wevers, Udo Engelke, Sytske Moolenaar
      Pages 77-85

  3. Disorders

    1. Front Matter

      Pages 87-87
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    2. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

      • Nenad Blau, Luisa Bonafé, Milan E. Blaskovics
      Pages 89-106

    3. Disorders of Neurotransmitter Metabolism

      • Keith Hyland
      Pages 107-122

    4. Disorders of GABA, Glycine, Serine and Proline

      • Jaak Jaeken, Tom De Koning, Johan Van Hove
      Pages 123-140

    5. Disorders of Tyrosine Degradation

      • Elisabeth Holme
      Pages 141-153

    6. Disorders of Histidine Metabolism

      • Yasuhiro Kuroda, Michinori Ito
      Pages 155-164

    7. Disorders of Leucine Metabolism

      • K. Michael Gibson, Orly N. Elpeleg, D. Holmes Morton, Rebecca S. Wappner
      Pages 165-189

    8. Disorders of Valine-Isoleucine Metabolism

      • William L. Nyhan, K. Michael Gibson
      Pages 191-213

    9. Various Organic Acidurias

      • Cornelis Jakobs, Nanda M. Verhoeven, Marjo S. Van Der Knaap
      Pages 215-232

    10. Disorders of the γ-Glutamyl Cycle

      • Agne Larsson, Ellinor Ristoff
      Pages 233-242

    11. Disorders of Sulfur Amino Acids

      • Flemming Skovby
      Pages 243-260

    12. Inherited Hyperammonemias

      • Claude Bachmann
      Pages 261-276
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Keywords

About this book

Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data.

                      
                    

Reviews

From the reviews of the second edition:

"This book provides a summary text which condenses a wealth of information into a readily accessible form. … All paediatricians could benefit by using this book as an authoritative summary on metabolic disease. … The book would also be of great value to scientists and chemical pathologists working in the field of paediatric clinical biochemistry. … I found this book to be an excellence reference text that would be a very appropriate addition to any paediatrician’s library." (JC Coakley, Journal of Paediatrics and Child Health, Vol. 39 (8), 2003)

"This book, aimed at clinicians and laboratory personnel, describes the pathogenesis, clinical characteristics and laboratory diagnosis of the many known metabolic diseases. … The text is concise with many tables and figures. …A very useful book for every pediatric department." (Journal of Pediatric Endocrinology & Metabolism, Vol. 16 (2), 2003)

Editors and Affiliations

  • Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zürich, Switzerland

    Nenad Blau

  • Dept. of Pediatrics and Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands

    Marinus Duran

  • Los Angeles, USA

    Milan E. Blaskovics

  • Biochemical Genetics Laboratory Dept. of Molecular and Med. Genetics, Oregon Health & Science University, Portland, USA

    K. Michael Gibson

Bibliographic Information

  • Book Title: Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

  • Editors: Nenad Blau, Marinus Duran, Milan E. Blaskovics, K. Michael Gibson

  • DOI: https://doi.org/10.1007/978-3-642-55878-8

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2003

  • Softcover ISBN: 978-3-642-62709-5Published: 23 August 2014

  • eBook ISBN: 978-3-642-55878-8Published: 06 December 2012

  • Edition Number: 2

  • Number of Pages: XXXVII, 716

  • Additional Information: Originally published by Chapman & Hall, 1996

  • Topics: Biochemistry, general, Laboratory Medicine, General Practice / Family Medicine, Pediatrics

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