Inborn Metabolic Diseases: Diagnosis and Treatment 5th ed. 2012 Edition
Author(s): Jean-Marie Saudubray (Editor), Georges van den Berghe (Editor), John H. Walter (Editor)
Publisher: Springer
Publication Date: January 20, 2012
Edition: 5th ed. 2012
Language: English
Print length: 660 pages
ISBN-10: 364215719X
ISBN-13: 9783642157196
Book Description
Being up to Date: Status Quo and Trends of Treatment
For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.
What´s new
– Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations
– Numerous updates on diagnostic procedures and treatment
– Newly discovered disorders.
As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.
Editorial Reviews
Review
From the reviews of the fifth edition:
“The authors did an impressive job making sure the book was up to date, including discussions of therapies that are still in their experimental stages. … Inborn Metabolic Diseases is an excellent clinical guide and reference to this complex subject. It will be highly valuable to anyone who cares for patients with metabolic diseases, or for whom such diseases are regularly in the differential diagnosis.” (Daniel Kenney, Neurology, April, 2013)
“This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. … the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. … This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice.” (Hans Christoph Andersson, Doody’s Book Reviews, October, 2012)
From the Back Cover
It now seems incontrovertible (as Alessandra Giannini has demonstrated) that the series of Sahelian droughts that began in the early 1970s were driven by changes in sea surface temperatures and that they were not caused by local land use mismanagement in the Sahel itself. Combined with the apparent re-greening of the Sahel, these findings effectively close a long-standing policy and scientific debate (in which the lead authors of this book participated) on the causes and extent of desertification in the Sahel. The opportunity now presents itself to treat this debate as a historical object lesson in the relationship between science, the formation of public opinion, and international policy-making in the context of climate change. In short, what might the great Sahelian desertification boondoggle have to tell us about current attempts to come to grips with climate change?
About the Author
Professor Jean-Marie Saudubray, M.D., Director of the Metabolic/Diabetes Unit, Dep. of Pediatrics, Hopital Necker Enfants Malades, Paris, France
Professor Georges van den Berghe, Professor, Metabolic Research Group, University of Louvain Medical School, Brussels, Belgium
Dr. John H. Walter, Willink Biochemical Genetics Unit, Royal Manchester Children´s Hospital, Manchester, Great Britain
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