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Inborn Metabolic Diseases: Diagnosis and Treatment

Saudubray, Jean-Marie
Inborn Metabolic Diseases: Diagnosis and Treatment Cover Image
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Book Information
Edition: 5th
Publisher: Springer Nature
ISBN: 3-642-15719-X (364215719X)
ISBN-13: 978-3-642-15719-6 (9783642157196)
New Edition: 3-662-49769-7
Binding: Hardcover
Copyright: 2012
Publish Date: 01/12
Weight: 3.49 Lbs.
Pages: 656
Subject Class: GEN (Genetics)
Remarks:
A New Edition of this Title is Available
Doody Star Rating: 5
Return Policy: Returns accepted up to 12 months provided no other recalls or return restrictions apply.
Table Of Contents: View
Contributing Authors: View
 
Class Specifications
Discipline: Metabolic Dis
Subject Definition: Metabolism, Inborn Errors-Diagnosis
NLM Class: WD 205
LC Class: RC267.8
Abstract: 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.

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