A Clinical Guide to Inherited Metabolic Diseases / Edition 3

A Clinical Guide to Inherited Metabolic Diseases / Edition 3

by Joe T. R. Clarke
     
 

ISBN-10: 0521614996

ISBN-13: 9780521614993

Pub. Date: 12/08/2005

Publisher: Cambridge University Press

This user-friendly clinical handbook provides a clear and concise overview of how to recognize and diagnose inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The…  See more details below

Overview

This user-friendly clinical handbook provides a clear and concise overview of how to recognize and diagnose inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The new edition provides more in-depth coverage on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as well as those on laboratory investigation and treatment.

Product Details

ISBN-13:
9780521614993
Publisher:
Cambridge University Press
Publication date:
12/08/2005
Edition description:
Revised
Pages:
360
Product dimensions:
6.85(w) x 9.72(h) x 0.75(d)

Table of Contents

Preface to third edition; 1. General principles; 2. Neurologic syndrome; 3. Metabolic acidosis; 4. Hepatic syndrome; 5. Cardiac syndromes; 6. Storage syndromes and dysmorphism; 7. Acute metabolic illness in the newborn; 8. New born screening; 9. Laboratory investigation; 10. Treatment; Index.

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