Inborn Metabolic Diseases

Diagnosis and Treatment

AvJean-Marie Saudubray,Matthias R. Baumgartner

Inbunden, Engelska, 2022

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Beskrivning

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.

Produktinformation

Utgivningsdatum:2022-08-08
Mått:210 x 279 x 44 mm
Vikt:2 324 g
Format:Inbunden
Språk:Engelska
Antal sidor:894
Upplaga:7
Förlag:Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
ISBN:9783662631225

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Mer om författaren

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.

Innehållsförteckning

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