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An authoritative and unrivaled presentation of the origin and pathogenesis of inherited metabolic disease. Maintaining the qualities of scholarship, clarity, and comprehensiveness praised in its predecessors, this classic reference is completely 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.
Autor: Beaudet, Arthur L.