Overview
- 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 look when being called for advice
- With 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
- Includes supplementary material: sn.pub/extras
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Table of contents (35 chapters)
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Front Matter
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Introduction to Inborn Errors of Metabolism
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Approach to the Patient with Metabolic Disease
Keywords
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)
Editors and Affiliations
Bibliographic Information
Book Title: Inherited Metabolic Diseases
Book Subtitle: A Clinical Approach
Editors: Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan
DOI: https://doi.org/10.1007/978-3-540-74723-9
Publisher: Springer Berlin, Heidelberg
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer-Verlag Berlin Heidelberg 2010
eBook ISBN: 978-3-540-74723-9Published: 21 November 2009
Edition Number: 1
Number of Pages: XIV, 386
Topics: Pediatrics, Internal Medicine, General Practice / Family Medicine, Neurology, Pathology, Human Genetics