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Inborn Metabolic Diseases

Diagnosis and Treatment

Editors: Saudubray, J.-M., Baumgartner, M., Garcia-Cazorla, A., Walter, J. (Eds.)

  • 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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eBook  
  • ISBN 978-3-662-63123-2
  • Digitally watermarked, DRM-free
  • Included format:
  • ebooks can be used on all reading devices
Hardcover ca. 207,99 €
price for Spain (gross)
  • Due: November 8, 2021
  • ISBN 978-3-662-63122-5
  • Free shipping for individuals worldwide
  • Institutional customers should get in touch with their account manager
  • Covid-19 shipping restrictions
  • The final prices may differ from the prices shown due to specifics of VAT rules
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. 

About the authors

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.

Buy this book

eBook  
  • ISBN 978-3-662-63123-2
  • Digitally watermarked, DRM-free
  • Included format:
  • ebooks can be used on all reading devices
Hardcover ca. 207,99 €
price for Spain (gross)
  • Due: November 8, 2021
  • ISBN 978-3-662-63122-5
  • Free shipping for individuals worldwide
  • Institutional customers should get in touch with their account manager
  • Covid-19 shipping restrictions
  • The final prices may differ from the prices shown due to specifics of VAT rules
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Bibliographic Information

Bibliographic Information
Book Title
Inborn Metabolic Diseases
Book Subtitle
Diagnosis and Treatment
Editors
  • Jean-Marie Saudubray
  • Matthias Baumgartner
  • Angels Garcia-Cazorla
  • John Walter
Copyright
2022
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag GmbH Germany, part of Springer Nature
eBook ISBN
978-3-662-63123-2
DOI
10.1007/978-3-662-63123-2
Hardcover ISBN
978-3-662-63122-5
Edition Number
7
Number of Illustrations
80 illustrations in colour
Topics