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Title Inborn metabolic diseases : diagnosis and treatment / Jean-Marie Saudubray, Georges van den Berghe, John H. Walter (editors).
Imprint Berlin : Springer, 2012.
Edition Fifth edition.

View online
View online
Subject Metabolism, Inborn errors of.
Genetics, Medical.
Metabolism, Inborn Errors.
Alt Name Saudubray, J. M. (Jean-Marie), 1937-
Van den Berghe, Georges, 1938-
Walter, John (John Hugh)
Description 1 online resource (xxv, 656 pages) : illustrations
polychrome rdacc
Edition Fifth edition.
Bibliography Note Includes bibliographical references and index.
Contents 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 disorders -- Disorders of lipid and bile acid metabolism -- Disorders of nucleic acid and heme metabolism -- Disorders of metal transport -- Organelle-related disorders: lysosomes, peroxisomes, and golgi and pre-golgi systems.
Summary 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.
ISBN 9783642157202 (electronic bk.)
3642157203 (electronic bk.)
9783642157196 (print)
364215719X (print)
OCLC # 763300196
Additional Format Print version: Inborn metabolic diseases. 5th ed. Berlin : Springer, 2012 9783642157196 (DLC) 2011938284 (OCoLC)773534810

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