Editors:
- 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)
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Front Matter
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Disorders
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Front Matter
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About this book
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
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Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zürich, Switzerland
Nenad Blau
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Dept. of Pediatrics and Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands
Marinus Duran
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Los Angeles, USA
Milan E. Blaskovics
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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
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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