The Metabolic and Molecular Bases of Inherited Disease

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Authored by the most respected clinicians and researchers in the field,THE METABOLIC AND MOLECULAR BASES OF INHERITED DISEASE,8th Edition,is the undisputed authority on genetic inheritance. In its pages,you can explore what is currently known about every inherited disease known to exist. Here you can review genetic perspectives,basic concepts,how inherited diseases occur,diagnostic approaches,and the effects of hormones. You can research specific syndromes,or read about specific body systems affected by disease. ...
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Overview

Authored by the most respected clinicians and researchers in the field,THE METABOLIC AND MOLECULAR BASES OF INHERITED DISEASE,8th Edition,is the undisputed authority on genetic inheritance. In its pages,you can explore what is currently known about every inherited disease known to exist. Here you can review genetic perspectives,basic concepts,how inherited diseases occur,diagnostic approaches,and the effects of hormones. You can research specific syndromes,or read about specific body systems affected by disease. No other reference even comes close to its authority and comprehensive scope!

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

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Editorial Reviews

From The Critics
Reviewer: Ian A. Glass, MD (University of Washington School of Medicine)
Description:This is the expanded and updated eighth edition of one of the most well known, authoritative genetics texts.
Purpose:The seventh edition assumed the purpose of becoming a textbook of the contribution of genetics to medicine. This aim is extended even further in this four-volume edition, presenting comprehensive information from basic research and clinical sources. The work contains an awe-inspiring amount of information and by and large fulfills its lofty aims. The number of chapters has increased by 100 and the selection criteria for inclusion, "an identifiable molecular explanation for the disease and it affects a dynamic phenotype." is wide. Inevitably, selection exists but the range of human disorders covered is truly impressive. For a 500-author work the writing is concise:accessible, even:and the book achieves its aims.
Audience:A wide readership of scientists and physicians is anticipated. Any professional desiring an in-depth discourse on a particular human disorder with a genetic component or more general themes of human genetics will benefit from consulting this book, but it assumes a degree of basic scientific understanding. The authors and editors are all eminent and recognized authorities in their field.
Features:The book is well illustrated. The plentiful accompanying tables are helpful summaries of complex information. The references are pertinent and relevant and the table of contents and index are more than adequate. The appearance of the book is enhanced by its new green coloration and a coverdepicting the double helix. The uniqueness of this book lies in its willingness to not only report individual disorders in detail, but to develop general themes in the face of rapid scientific advances.
Assessment:In my opinion, this work has no peer and is an outstanding contribution to the medico-scientific texts currently available. No library should be without a copy. It deserves its reputation as a classic.
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Product Details

  • ISBN-13: 9780070607309
  • Publisher: McGraw-Hill Companies, The
  • Publication date: 1/1/1995
  • Edition description: 7TH
  • Edition number: 7

Table of Contents

I. INTRODUCTION
II. PERSPECTIVES
III. GENERAL THEMES
IV. CANCER
V. CHROMOSOMES
VI. DIAGNOSTIC APPROACHES
VII. CARBOHYDRATES
VIII. AMINO ACIDS
IX. ORGANIC ACIDS
X. DISORDERS OF MITOCHONDRIAL FUNCTION
XI. PURINES AND PYRIMIDINES
XII. LIPIDS
XIII. PORPHYRINS
XIV. METALS
XV. PEROXISOMES
XVI. LYSOSOMAL DISORDERS
XVII. VITAMINS
XVIII. HORMONES
XIX. BLOOD
XX. IMMUNE AND DEFENSE SYSTEMS
XXI. MEMBRANE TRANSPORT DISORDERS
XXII. CONNECTIVE TISSUE
XXIII. CARDIOVASCULAR SYSTEM
XXIV. KIDNEY
XXV. MUSCLE
XXVI. LUNG
XXVII. SKIN
XXVIII. NEUROGENETICS
XXIX. EYE
XXX. MULTISYSTEM INBORN ERRORS OF DEVELOPMENT
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