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Metabolic Bases of Inherited Disease

Overview

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 ...
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Former Library book. Shows some signs of wear, and may have some markings on the inside. 100% Money Back Guarantee. Shipped to over one million happy customers. Your purchase ... benefits world literacy! Read more Show Less

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seventh Good [ No Hassle 30 Day Returns ] [ Edition: seventh ] Publisher: Mcgraw-Hill Pub Date: 1/1/1960 Binding: Hardcover Pages: 4605.

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Overview

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.

The book contains predominantly black-and-white illustrations, with some color illustrations.

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Editorial Reviews

Doody's Review Service
Reviewer: Joel Charrow, MD (Children's Memorial Hospital)
Description: This is an encyclopedic reference on the genetic basis, biochemical pathophysiology, pathology, diagnosis, and treatment of inherited disorders. This is the seventh edition of a classic; it appropriately replaces the 1989 edition.
Purpose: As in previous editions, the focus is largely on inherited metabolic disorders. However, with the change of title from Metabolic Basis... to Metabolic and Molecular Bases... comes the addition of many other inherited disorders that are not considered "metabolic" (e.g., cancer, disease predisposition). The work approaches a textbook of molecular medicine as we understand it in 1995, a goal the editors explicitly embrace.
Audience: This is a reference — an encyclopedia — that is as essential to a medical library as a medical dictionary or a textbook of internal medicine or pediatrics. It will be frequently read by clinical geneticists and will also be consulted by medical, graduate, and postdoctoral students interested in metabolism and the molecular basis of disease and disease predisposition. The editors and contributors (who now number more than 300) are widely recognized authorities in their fields.
Features: The three volumes (more than 4,600 pages) contain 154 chapters, 32 of which premier in this edition. The index alone is 93 pages long. New to this edition are discussions of mutational mechanisms, pharmacogenetics. and a thoughtful and comprehensive set of algorithms for the diagnosis of inborn errors of metabolism. There are new chapters on cancer and X-chromosome inactivation, and many very significant rewrites and revisions of chapters that appeared in previous editions. Tables containing recent gene mapping information and summaries of the covered diseases are present, of course.
Assessment: This monumental work easily lives up to the reputation of previous editions. By expanding the traditional theme of metabolic disorders to include many other inherited disorders and inherited predispositions to disease, it successfully addresses the needs of a broader audience. The section on "General Themes" provides very valuable introductions to relatively new concepts (e.g., imprinting, biogenesis of membranes and organelles). Many clinicians who have been daunted by previous editions will be won over by the diagnostic algorithms.
Joel Charrow
This is an encyclopedic reference on the genetic basis, biochemical pathophysiology, pathology, diagnosis, and treatment of inherited disorders. This is the seventh edition of a classic; it appropriately replaces the 1989 edition. As in previous editions, the focus is largely on inherited metabolic disorders. However, with the change of title from Metabolic Basis... to Metabolic and Molecular Bases... comes the addition of many other inherited disorders that are not considered "metabolic" (e.g., cancer, disease predisposition). The work approaches a textbook of molecular medicine as we understand it in 1995, a goal the editors explicitly embrace. This is a reference -- an encyclopedia -- that is as essential to a medical library as a medical dictionary or a textbook of internal medicine or pediatrics. It will be frequently read by clinical geneticists and will also be consulted by medical, graduate, and postdoctoral students interested in metabolism and the molecular basis of disease and disease predisposition. The editors and contributors (who now number more than 300) are widely recognized authorities in their fields. The three volumes (more than 4,600 pages) contain 154 chapters, 32 of which premier in this edition. The index alone is 93 pages long. New to this edition are discussions of mutational mechanisms, pharmacogenetics. and a thoughtful and comprehensive set of algorithms for the diagnosis of inborn errors of metabolism. There are new chapters on cancer and X-chromosome inactivation, and many very significant rewrites and revisions of chapters that appeared in previous editions. Tables containing recent gene mapping informationand summaries of the covered diseases are present, of course. This monumental work easily lives up to the reputation of previous editions. By expanding the traditional theme of metabolic disorders to include many other inherited disorders and inherited predispositions to disease, it successfully addresses the needs of a broader audience. The section on "General Themes" provides very valuable introductions to relatively new concepts (e.g., imprinting, biogenesis of membranes and organelles). Many clinicians who have been daunted by previous editions will be won over by the diagnostic algorithms.

4 Stars! from Doody
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Product Details

  • ISBN-13: 9780079098269
  • Publisher: McGraw-Hill Companies, The
  • Publication date: 1/28/1995
  • Edition description: New Edition Due 12/2000
  • Edition number: 7
  • Pages: 4605
  • Product dimensions: 11.65 (w) x 9.37 (h) x 9.54 (d)

Table of Contents

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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