The Metabolic and Molecular Bases of Inherited Disease, 4 volume set

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9780079130358: The Metabolic and Molecular Bases of Inherited Disease, 4 volume set
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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. No other reference even comes close to its authority and comprehensive scope!
* More than 50% totally new text and topics, with the remaining text totally written or updated to include the latest advances
* Expanded coverage of cancer - from six chapters to more than three dozen - advances your knowledge of this explosive disease state and cancer genetics
* New chapter on history of the inborn errors of metabolism
* New chapter on the impact of inherited disease on health
* New chapter on inherited diseases' response to treatment
* New chapters relating to newly cloned genes
* New insight on genetics' contribution to the understanding of complex traits and birth defects
* Expanded coverage of neurogenetics
* New information on comparative genomics and its relationship to the genome projects
* New sections and chapters on disorders of human somatic development
* Useful algorithms for diagnosing disorders of mitochondrial function and of mendelianclinical phenotypes

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About the Author:

McGraw-Hill authors represent the leading experts in their fields and are dedicated to improving the lives, careers, and interests of readers worldwide

From The New England Journal of Medicine:

The first impression this book makes is one of hugeness: it is huge in size, huge in scope, and huge in vision. This set of volumes, which weighs in at 16 kg (35 lb) and is too large to carry to one's car without advance planning, is no vade mecum. In the preface to this edition, there is mention of an informal survey of owners of the seventh edition, of whom 70 percent used the book at least weekly. This book has become indispensable to those in the field, as well as to a much broader audience. Does this edition build on the achievements of the previous seven?

The first edition, then titled The Metabolic Basis of Inherited Disease, was designed to give clinicians and scientists a foundation in a field that seemed at last to be occupying an important place in medicine. Prefaces to books give insight into the editorial rationale behind them. In this eighth edition, the prefaces to the sixth and seventh editions are reprinted, perhaps because the direction of the book has changed. The editors of the earlier editions were the redoubtable team of Stanbury, Wyngaarden, and Frederickson, who were later joined by Goldstein and Brown. With the sixth edition came a change in editorship and a widening of the scope in recognition of the importance of molecular genetics. Also, for the first time, there were chapters on chromosomal disorders, Down's syndrome, and the fragile X syndrome, which the new editors realized ``might be the thin end of a very big wedge.'' So it has proved. For the seventh edition, the title was changed to The Metabolic and Molecular Bases of Inherited Disease, signaling the inexorable rise of molecular genetics as an important consideration in all aspects of inherited disease. The changes in the current edition are even more striking.

Early on in the study of inborn errors of metabolism, we all came to realize what Garrod had known a half century or more before, that such research illuminates normal biochemistry. Now we have a broader field and what the editors call ``the ultimate guidebook for individualized medicine.'' Among the 225 chapters (with more than 500 authors) are, for example, 44 chapters on cancer, composing 10 percent of the whole book, as compared with 6 chapters in the previous edition and none before that. ``Cancer,'' note the authors in the introduction to these chapters, ``is in essence a genetic disease.'' This statement is an indication of the change in direction and the expansion of scope of this great textbook. It has grown from the original notion of inborn errors -- those very rare, arcane aminoacidopathies and organic acidemias with biochemical pathways that ordinary physicians shrank from exploring -- to encompass the whole of medicine that can be related to ``mutation.'' And that really means almost all of medicine. Our susceptibility to many disorders, even some accidents, and certainly infections, is influenced to some extent by our genetic makeup. For example, work in Nepal has identified a genetic background of the susceptibility to reinfection by roundworms. So where should this book go next?

There are many new chapters in this edition, apart from the increased coverage of cancer. The general chapters in the first volume are useful and enlightening. The first chapter by the four primary editors is a thoughtful account of the unifying themes of the book -- in particular, its focus on diseases caused by mutations and its emphasis on the pathogenesis of various disorders, which is explored in this and previous editions in satisfying detail. A third unifying theme, therapies for inherited diseases, is developed in an excellent later chapter in which the effectiveness of various treatments is analyzed. In a chapter on pharmacogenetics, the authors use three topics to illustrate the subject and do not pretend to be all-encompassing. The inclusion of a chapter on aging is perhaps slightly surprising, but the presence of one on mouse models of human genetic disease is not, since this is an increasingly important topic. Also on more general themes, the chapter on diagnostic approaches to metabolic disease has been extended and polished, and it remains a valuable aid to clinicians struggling with unusual clinical presentations and the unexpected concurrence of various symptoms and signs. New subjects include the channelopathies, a newly recognized group of disorders with molecular defects in voltage- and ligand-gated ion channels, and such diverse multisystem disorders as Hirschsprung's disease, hereditary hearing loss, and Rett's syndrome. There are also several newly included neurogenetic topics.

What distinguishes this book from some others is the thoroughness of its treatment of subjects, its authority, its academic approach, and the sense of excitement that it engenders. It is difficult to find much that is wrong with this book. Sometimes the reasons for editorial decisions about the amount of space accorded various topics are not clear, and some very rare variants on which little new information is available have been allotted as many pages as much more common disorders that are part of rapidly developing fields. More important, there will be much discussion of what has been included overall and what has been omitted. It was obviously difficult to draw a line, and the line that was chosen is not readily apparent. The future direction of the book requires careful consideration. If almost all of medicine is to some extent genetic, this might indeed have to become a textbook of all of medicine. One problem is the sheer weight and size of the four volumes, and the cost of the book must put it out of reach even for some institutions. A promised on-line version will address some of these issues.

To what should the editors of a medical textbook aspire? All textbooks are of necessity slightly out of date at the time of publication. There is a tendency to believe that information on a given subject can be found readily in data bases and that textbooks may be mainly for students or for people exploring aspects of medicine outside their own areas of expertise. But great textbooks should appeal to experts in the field, should contain a series of integrated, authoritative reviews that both inform and illuminate, and should put the whole into some sort of perspective. This book succeeds with flying colors.

Bridget Wilcken, M.B., Ch.B.
Copyright © 2001 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.

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Charles R. Scriver; William S. Sly; Barton Childs; Arthur L. Beaudet; David Valle; Kenneth W. Kinzler; Bert Vogelstein
Published by McGraw-Hill Professional (2000)
ISBN 10: 0079130356 ISBN 13: 9780079130358
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