A Clinical Guide to Inherited Metabolic Diseases
Edition: 2 edition
Publisher: Cambridge University Press
Published: July 15, 2002
Language: eng
Format: Paperback
Number of pages: 306
ISBN-13: 9780521890762
Subjects: Diseases & disorders; Paediatric medicine; Metabolism, Inborn errors of; Laboratory Techniques and Proc; Differential Diagnosis; Metabolism Disorders; Medical / Nursing; Metabolism, Inborn Errors; Medical; Diseases; Genetics; Medical / Pediatrics; Endocrinology & Metabolism; Diagnosis; Diagnosis, Differential
First sentence: In his 1908 address to the Royal College of Physicians of London, Sir Archibald Garrod coined the expression inborn error of metabolism to describe a group of disorders-alkaptonuria, benign pentosuria, albinism, and cystinuria-apparently caused by point defect in the metabolism of simple intermediary metabolites, like amino acids and monosaccharides.