Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
Editors: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (Eds.)
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- 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
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- About this book
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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
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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)
- Table of contents (41 chapters)
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Simple Tests in Urine and Blood
Pages 3-10
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Amino Acid Analysis
Pages 11-26
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Organic Acid Analysis
Pages 27-44
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Miscellaneous Analyses
Pages 45-55
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Tandem Mass Spectrometry in Clinical Diagnosis
Pages 57-75
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Table of contents (41 chapters)
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Bibliographic Information
- Bibliographic Information
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- Book Title
- Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
- Editors
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- N. Blau
- M. Duran
- M.E. Blaskovics
- K.M. Gibson
- Copyright
- 2003
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Springer-Verlag Berlin Heidelberg
- eBook ISBN
- 978-3-642-55878-8
- DOI
- 10.1007/978-3-642-55878-8
- Softcover ISBN
- 978-3-642-62709-5
- Edition Number
- 2
- Number of Pages
- XXXVII, 716
- Additional Information
- Originally published by Chapman & Hall, 1996
- Topics
