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Inborn Metabolic Diseases: Diagnosis and TreatmentFrom Springer
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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.
- Sales Rank: #1257350 in Books
- Published on: 2012-01-20
- Original language: English
- Number of items: 1
- Dimensions: 10.50" h x 1.50" w x 8.00" l, 3.50 pounds
- Binding: Hardcover
- 660 pages
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) 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
Most helpful customer reviews
3 of 3 people found the following review helpful.
An awesome clinical book
By Medical student
Inborn Metabolic Diseases, Diagnosis and Treatment written by Saudubray, van den Berghe and Walter is a 656 page book. Internationally recognized experts on their subjects contributed to the 5th edition. The content of the book is:
Diagnosis and Treatment: General Principles
Disorders of Carbohydrate Metabolism
Disorders of Mitochondrial Energy Metabolism
Disorders of Amino Acid Metabolism and Transport
Vitamin-Responsive Disorders
Neurotransmitter and Small Peptide Disoders
Lipid Bile and acid Metabolism
Disorders of Nucleic Acid and Heme Metabolism
Disorders of Metal and Transport
Organelle-related Disoders; Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
Each disease related chapter includes comprehensively a case presentation, followed by diagnostic approaches, and treatment. New modes of treatment as well as psychological aspects are included in most of the chapters. This book is awesome and indispensable for everyone seeking a detailed work on inborn metabolic diseases. Finally this clinical book helped me understand inborn metabolic diseases. Thank you.
Paul Schumacher, Harvard Medical School, Boston, March 2012
0 of 0 people found the following review helpful.
Five Stars
By nirtak
Very well written.
2 of 4 people found the following review helpful.
Saudubray is the best in Metabolics!
By Llouis
There are usually few words to describe the best.Unfortunately it was not available anymore in Canada so I had to order it in the US...
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