Inherited Metabolic Diseases

A Clinical Approach

Editors: Hoffmann, Georg F., Zschocke, Johannes, Nyhan, William L. (Eds.)

  • Provides a concise and user-friendly guide to the diagnosis and initial management of patients with metabolic diseases
  • Helps physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals
  • For metabolic and genetic specialists these indices will be helpful as a quick reference when being called for advice
  • Contains reader-friendly and logical structure and algorithms, including questions to answers
  • Includes an extensive amount of graphs, especially metabolic pathways, and an expanded index
  • Written by renowned and international experts of the field
see more benefits

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-540-74723-9
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
About this book

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options.  ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Reviews

From the reviews:

“The authors have written a reader friendly and instructive textbook which is divided into 5 parts. … Highly illustrated with many tables. … An updated, very useful text.” (Pediatric Endocrinology Reviews, Vol. 7 (3), March-April, 2010)

“This is the eighth edition of an intense but easy to read textbook of genetics with detailed explanations of the concepts and logic behind the science of genes and genomes. … Designed for undergraduate students, this book provides a concise and logical base for individuals who may pursue careers in genetics. … The authors are well recognized authorities in human genetics. … Congratulations to the authors for this unique textbook. The art of teaching genetics is well served by their contribution.” (Luis F. Escobar, Doody’s Review Service, February, 2012)


Table of contents (35 chapters)

  • Disorders of Intermediary Metabolism

    Zschocke, Johannes

    Pages 3-6

  • Disorders of the Biosynthesis and Breakdown of Complex Molecules

    Zschocke, Johannes

    Pages 7-9

  • Neurotransmitter Defects and Related Disorders

    Hoffmann, Georg F.

    Pages 11-12

  • When to Suspect Metabolic Disease

    Nyhan, William L.

    Pages 15-23

  • Metabolic Emergencies

    Nyhan, William L.

    Pages 25-31

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-540-74723-9
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Loading...

Recommended for you

Loading...

Bibliographic Information

Bibliographic Information
Book Title
Inherited Metabolic Diseases
Book Subtitle
A Clinical Approach
Editors
  • Georg F. Hoffmann
  • Johannes Zschocke
  • William L. Nyhan
Copyright
2010
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-540-74723-9
DOI
10.1007/978-3-540-74723-9
Edition Number
1
Number of Pages
XIV, 386
Topics