A Clinical Guide to Inherited Metabolic Diseases
Edition: 3 edition
Publisher: Cambridge University Press
Published: January 30, 2006
Language: eng
Format: Paperback
Number of pages: 358
ISBN-13: 9780521614993
Subjects: Diseases & disorders; Medical genetics; Medical / Nursing; Medical; Pediatrics; Diseases; Endocrinology & Metabolism; Medical / Pediatrics; Metabolism, Inborn errors of
First sentence: In his 1908 address to the Royal College of Physicians of London, Sir Archibald Garrod (1857-1936) coined the expression inborn error of metabolism to describe a group of disorders - alkaptonuria, benign pentosuria, albinism, and cystinuria -which ". . . apparently result from failure of some step or other in the series of chemical changes which constitute metabolism".
Description: This 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.