TY - BOOK AU - Scriver, C.R. (ed) AU - Beaudet, A.L. (ed) AU - Sly, W.S. (ed) AU - Valle, D. (ed) AU - Stanbury, J.B. (ed) AU - Wyngaarden, J.B. (ed) AU - Fredrickson, D.S. (ed) TI - The metabolic and molecular bases of inherited disease volume 1 SN - 007060729X PY - 1995/// CY - New York PB - McGraw-Hill KW - GENETIC DISEASES, INBORN KW - METABOLIC DISEASES KW - METABOLISM, INBORN ERRORS N1 - General themes; cancer and genetics; chromosomes and autosomes; carbohydrates; amino acids; organic acids N2 - Hardback; This text provides an authoritative presentation of the origin and pathogenesis of inherited metabolic disease. It has been updated and expanded to incorporate new information in the field of molecular biology - one of the most rapidly developing areas in medicine. Each chapter contains sections on both biochemical and molecular mechanisms, as well as clinical diagnostic and management approaches, and a summary ER -