The Metabolic and molecular bases of inherited disease

著者

書誌事項

The Metabolic and molecular bases of inherited disease

editors, Charles R. Scriver ... [et al.] ; consulting editors, John B. Stanbury, James B. Wyngaarden, Donald S. Fredrickson

McGraw-Hill, Health Professions Division, c1995

7th ed

  • : set
  • v. 1
  • v. 2
  • v. 3

タイトル別名

Metabolic basis of inherited disease

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注記

Rev. ed. of: The metabolic basis of inherited disease. 6th ed. c1989

Includes bibliographical references

内容説明・目次

内容説明

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.

目次

Part 1: General Themes.Part 2: Cancer and Genetics.Part 3: Chromosomes and Autosomes.Part 4: Carbohydrates.Part 5: Amino Acids.Part 6: Organic Acids.Part 7: Purines and Pyrimidines.Part 8: Lipoprotein and Lipid Metabolism Disorders.Part 9: Porphyrins and Heme.Part 10: Metals.Part 11: Peroxisomes.Part 12: Lysosomal Enzymes.Part 13: Hormones: Synthesis and Action.Part 14: Vitamins.Part 15: Blood and Blood Forming Tissue.Part 16: Membrane Transport Systems.Part 17: Defense and Immune Mechanisms.Part 18: Connective Tissues.Part 19: Muscle.Part 20: Eye.Part 21: Skin.Part 22: Intestine.Part 23: Neurogenetics.Part 24: Significant Developments in Progress.

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