It looks like you're using Internet Explorer 11 or older. This website works best with modern browsers such as the latest versions of Chrome, Firefox, Safari, and Edge. If you continue with this browser, you may see unexpected results.
Comprehensive text on genetic disorders and the molecular and metabolic underpinnings of diseases as well as updates on pathophysiology and treatment. Includes chapters on the history of the inborn errors of metabolism, their impact on health, and their response to treatment. Covers genetic perspectives, basic concepts, how inherited diseases occur, diagnostic approaches, and the effects of hormones, as well as coverage of specific syndromes and specific body systems affected by disease.