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A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases

Paperback

Medical Reference

ISBN10: 0521614996
ISBN13: 9780521614993
Publisher: Cambridge University Press
Published: Dec 8 2005
Pages: 360
Weight: 1.25
Height: 0.75 Width: 6.73 Depth: 9.72
Language: English
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.

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Medical Reference