Inborn Metabolic Diseases: Diagnosis and Treatment

Front Cover
Jean-Marie Saudubray, Georges van den Berghe, John H. Walter
Springer Science & Business Media, Nov 16, 2011 - Medical - 660 pages

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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Contents

Abbreviation List
1
General Principles
2
II Disorders of Carbohydrate Metabolism
112
III Disorders of Mitochondrial EnergyMetabolism
184
IV Disorders of Amino Acid Metabolismand Transport
248
V VitaminResponsive Disorders
373
VI Neurotransmitter and SmallPeptide Disorders
403
VII Disorders of Lipid and BileAcid Metabolism
436
VIII Disorders of Nucleic Acidand Heme Metabolism
496
IX Disorders of Metal Transport
533
Lysosomes Peroxisomes and Golgiand PreGolgi Systems
552
Medications Used in theTreatment of Inborn Errors
625
Subject Index
633
Copyright

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About the author (2011)

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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