Metabolic and Molecular Bases of Inherited Diseases

This is a standard encyclopaedic reference. The eigth edition offers 255 chapters on each condition, including functional genomics and those forms of genetic disease, with metabolic and known molecular explanations. It covers areas such as, the effects of genes, their location on the chromosomes and what treatment, if any, can be recommended to paediatricians and other clinicians whose patients show certain signs and symptoms. This eighth edition has been expanded and updated to include colon cancer, breast cancer, triplet repeat disorders, fragile X mental retardation, biochemical and molecular mechanisms, and clinical diagnosis and management approaches. Scriver, Charles R. (Montreal Children''s Hospital, Quebec, Canada) / Beaudet, Arthur L. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA) / Sly, William S. (Department of Biochemistry, St Louis University School of Medici ne, USA) / Valle, David (Howard Hughes Medical Institute, The Johns Hopkins University, USA) / Vogelstein, Bert (The Johns Hopkins University Oncology Center, School of Medici ne, USA) / Childs, Barton (The Johns Hopkins University, School of Medicine, USA) CONTENTS Perspectives; general themes; cancer; chromosomes; diagnostic approaches; carbohydrates; amino acids; organic acids; disorders of mitochondrial function; purines and pyrimidines; lipids; porphyrins; metals; peroxisomes; lysosomal disorders; vitamins; hormones; blood; immune and defense systems; membrane transport disorders; connective tissue; cardovascular system; kidney; muscle; lung; skin; neurogenetics; eye; multisystem inborn errors of develop ment.