Editors:
- Essential resource in the interdisciplinary field of inborn metabolic diseases
- Indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology
- Written by internationally recognised experts on their subjects
- Includes supplementary material: sn.pub/extras
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Table of contents (43 chapters)
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Front Matter
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Diagnosis and Treatment: General Principles
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Front Matter
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Disorders of Mitochondrial Energy Metabolism
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Front Matter
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Disorders of Amino Acid Metabolism and Transport
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Front Matter
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About this book
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas.
Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
Reviews
Editors and Affiliations
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Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France
Jean-Marie Saudubray
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Division of Metabolism, University Children’s Hospital, Zurich, Switzerland
Matthias R. Baumgartner
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Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK
John Walter
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Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK
John Walter
About the editors
Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris.
Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.
Bibliographic Information
Book Title: Inborn Metabolic Diseases
Book Subtitle: Diagnosis and Treatment
Editors: Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter
DOI: https://doi.org/10.1007/978-3-662-49771-5
Publisher: Springer Berlin, Heidelberg
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer-Verlag GmbH Germany 2016
eBook ISBN: 978-3-662-49771-5Published: 10 November 2016
Edition Number: 6
Number of Pages: XXXI, 658
Topics: Pediatrics, Human Genetics, Endocrinology, Neurology