Inborn Metabolic Diseases

Diagnosis and Treatment

Editors: Saudubray, Jean-Marie, Berghe, Georges van den, Walter, John H. (Eds.)

  • Being up to date: Status Quo and Trends of Treatment
  • Standard textbook in this interdisciplinary field
  • Extensively revised and updated
  • Including errors affecting adults
see more benefits

Buy this book

eBook $159.00
price for USA (gross)
  • ISBN 978-3-642-15720-2
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Rent the ebook  
  • Rental duration: 1 or 6 month
  • low-cost access
  • online reader with highlighting and note-making option
  • can be used across all devices
About this book

Being up to Date: Status Quo and Trends of Treatment

For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.

What´s new

-          Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations

-          Numerous updates on diagnostic procedures and treatment

-          Newly discovered disorders.

As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

About the authors

Professor Jean-Marie Saudubray, M.D., Director of the Metabolic/Diabetes Unit, Dep. of Pediatrics, Hopital Necker Enfants Malades, Paris, France

Professor Georges van den Berghe, Professor, Metabolic Research Group, University of Louvain Medical School, Brussels, Belgium

Dr. John H. Walter, Willink Biochemical Genetics Unit, Royal Manchester Children´s Hospital, Manchester, Great Britain

Reviews

From the reviews of the fifth edition:

“The authors did an impressive job making sure the book was up to date, including discussions of therapies that are still in their experimental stages. … Inborn Metabolic Diseases is an excellent clinical guide and reference to this complex subject. It will be highly valuable to anyone who cares for patients with metabolic diseases, or for whom such diseases are regularly in the differential diagnosis.” (Daniel Kenney, Neurology, April, 2013)

“This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. … the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. … This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice.” (Hans Christoph Andersson, Doody’s Book Reviews, October, 2012)

Table of contents (26 chapters)

  • Clinical Approach to Inborn Errors of Metabolism in Paediatrics

    Jean-Marie Saudubray

    Pages 3-54

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

    Frédéric Sedel

    Pages 55-74

  • Newborn Screening for Inborn Errors of Metabolism

    Bridget Wilcken, Piero Rinaldo, Dietrich Matern

    Pages 75-86

  • Emergency Treatments

    Carlo Dionisi-Vici, Hélène Ogier de Baulny

    Pages 103-111

  • The Glycogen Storage Diseases and Related Disorders

    Pascal Laforêt, David A. Weinstein, G. Peter A. Smit

    Pages 115-139

Buy this book

eBook $159.00
price for USA (gross)
  • ISBN 978-3-642-15720-2
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Rent the ebook  
  • Rental duration: 1 or 6 month
  • low-cost access
  • online reader with highlighting and note-making option
  • can be used across all devices
Loading...

Recommended for you

Loading...

Bibliographic Information

Bibliographic Information
Book Title
Inborn Metabolic Diseases
Book Subtitle
Diagnosis and Treatment
Editors
  • Jean-Marie Saudubray
  • Georges van den Berghe
  • John H. Walter
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-15720-2
DOI
10.1007/978-3-642-15720-2
Edition Number
5
Number of Pages
XXVIII, 660
Topics