Inborn Metabolic Diseases

Diagnosis and Treatment

Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla , John Walter

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English

Springer-Verlag Berlin and Heidelberg GmbH & Co. K
08 August 2023

Medical genetics; Congenital diseases & disorders; Endocrinology; Neurology & clinical neurophysiology; Paediatric medicine

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.

Edited by: Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter
Imprint: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
Country of Publication: Germany
Edition: Seventh Edition 2022
Dimensions: Height: 279mm, Width: 210mm,
Weight: 2.262kg
ISBN: 9783662631256
ISBN 10: 3662631253
Pages: 894
Publication Date: 08 August 2023
Audience: Professional and scholarly , Undergraduate
Format: Paperback
Publisher's Status: Active

I Diagnosis and treatment: General principles.- II Disorders of Energy Metabolism.- III Small Molecule Disorders.- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders.- Section V Appendices

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.