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Inborn Metabolic Diseases

Diagnosis and Treatment

Editors: Saudubray, Jean-Marie, Baumgartner, Matthias R., Walter, John (Eds.)

  • 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
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Buy this book

eBook $149.00
price for USA
  • ISBN 978-3-662-49771-5
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $199.00
price for USA
  • ISBN 978-3-662-49769-2
  • Free shipping for individuals worldwide
  • Online orders shipping within 2-3 days.
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. 

About the authors

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.

Table of contents (43 chapters)

  • Clinical Approach to Inborn Errors of Metabolism in Pediatrics

    Saudubray, Jean-Marie (et al.)

    Pages 3-70

  • Inborn Errors of Metabolism in Adults : A Diagnostic Approach to Neurological and Psychiatric Presentations

    Mochel, Fanny (et al.)

    Pages 71-89

  • Diagnostic Procedures

    Touati, Guy (et al.)

    Pages 91-107

  • Emergency Treatments

    Schiff, Manuel (et al.)

    Pages 109-117

  • The Glycogen Storage Diseases and Related Disorders

    Walter, John (et al.)

    Pages 121-137

Buy this book

eBook $149.00
price for USA
  • ISBN 978-3-662-49771-5
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $199.00
price for USA
  • ISBN 978-3-662-49769-2
  • Free shipping for individuals worldwide
  • Online orders shipping within 2-3 days.
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Bibliographic Information

Bibliographic Information
Book Title
Inborn Metabolic Diseases
Book Subtitle
Diagnosis and Treatment
Editors
  • Jean-Marie Saudubray
  • Matthias R. Baumgartner
  • John Walter
Copyright
2016
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag GmbH Germany
eBook ISBN
978-3-662-49771-5
DOI
10.1007/978-3-662-49771-5
Hardcover ISBN
978-3-662-49769-2
Edition Number
6
Number of Pages
XXXI, 658
Topics