The Metabolic Bases of Inherited Disease

This presentation of the origin and pathogenesis of inhertied metabolic diseasek. It has been updated and expanded to incorporate the explosion of new information in the field of molecular biology - one of the most rapidly developing in all of medicine. Each chapter contains sections on both biochemical and molecular mechanisms, as well as clinical diagnostic and management approaches, and a summary. Other features include: new chapters on cloned genes and gene therapy review basic science principles and clinical applications, including recent successes in the treatment of cystic fribrosis and Huntington's disease; expanded coverage of cancer genetics, including the role of proto oncogenes; an overview of Fragile X mental retardation, including details on recently cloned genes; the latest findings on the underlying cause of colon cancer; diagnostic algorithms for the patient with an inborn error of metabolism; and mutational mechanisms and the methods used to detect them.