Editors:
A clinical and biochemical approach to the diagnosis and management of IEM
Indispensable for professionals in pediatrics, neonatology, pathological biochemistry, genetics, neurology
Written by internationally recognised experts on their subjects
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Table of contents (45 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 Energy Metabolism
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Front Matter
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Small Molecule Disorders
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Front Matter
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About this book
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.
Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
Editors and Affiliations
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Paris, France
Jean-Marie Saudubray
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Division of Metabolism, University Children’s Hospital, University of Zurich, Zurich, Switzerland
Matthias R. Baumgartner
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Servicio de Neurologia, Hospital Sant Joan de Deu, Barcelona, Spain
Ángeles García-Cazorla
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Developmental Biology and Medicine, School of Medical Sciences, University of Manchester, Manchester, UK
John Walter
About the editors
Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
Bibliographic Information
Book Title: Inborn Metabolic Diseases
Book Subtitle: Diagnosis and Treatment
Editors: Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter
DOI: https://doi.org/10.1007/978-3-662-63123-2
Publisher: Springer Berlin, Heidelberg
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer-Verlag GmbH Germany, part of Springer Nature 2022
Hardcover ISBN: 978-3-662-63122-5Published: 08 August 2022
Softcover ISBN: 978-3-662-63125-6Published: 08 August 2023
eBook ISBN: 978-3-662-63123-2Published: 24 June 2022
Edition Number: 7
Number of Pages: XXXIX, 894
Number of Illustrations: 6 b/w illustrations, 96 illustrations in colour
Topics: Pediatrics, Human Genetics, Endocrinology, Neurology