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Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Editors: Blau, N., Hoffmann, G.F.F., Leonard, J.V., Clarke, J.T.R. (Eds.)

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eBook 181,89 €
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  • ISBN 978-3-540-28962-3
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About this book

The greatest dif?culty in life is to make knowledge effective, to convert it into practical wisdom. Sir William Osler. The inborn errors of metabolism, as a group of metabolic diseases, are re- tively rare and are sometimes called “orphan diseases. ” As a group, they account for about 1 in 2,500 births (Applegarth et al. 2000) and, as a cumulative group reaching 20 years of age, their prevalence is about 40 cases per 100,000 popu- tion. In terms of patient days of continuous supervision and care, hundreds of thousands of such days are involved per generation of these patients. Although experience with these diseases as a class may be small and people expert in their management may be relatively few, in the years to come many caregivers will become involved. This book offers help to them. Until the mid-twentieth century, hereditary metabolic and other genetic diseases were considered to be purely “genetic” problems. Destiny would take its course, treatment did not exist, and genetic counseling about recurrence risks was virtually all that could be offered. Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU. Other genetic diseases for which an environmental experience was an essential component of cause (e. g. , exposure to a dietary component or a drug) were then seen to yield to treatment.

Reviews

From the reviews:

"The Physician’s Guide to the Treatment and Follow-up of Metabolic Diseases caters to the ever-growing community of doctors seeing patients with these rare disorders. It compiles concise information on … a variety of rare inherited disorders, meticulously listing possible medication and dosages. … Each chapter is written by well-known experts in the field … . an ideal reference guide for the beginner and the expert in the field alike." (Dr. Zoltan Lukacs, Journal of Inherited Metabolic Disease, Vol. 29, 2006)


Table of contents (38 chapters)

Table of contents (38 chapters)
  • Emergency Management of Metabolic Diseases

    Pages 3-13

    Hoffmann, Georg F. (et al.)

  • The Role of Communication in the Treatment of Inborn Metabolic Diseases

    Pages 15-21

    Burgard, Peter (et al.)

  • Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

    Pages 25-34

    Blau, Nenad (et al.)

  • Disorders of Neurotransmission

    Pages 35-42

    Hoffmann, Georg F. (et al.)

  • Disorders of GABA, Glycine, Serine, and Proline

    Pages 43-48

    Jaeken, Jaak (et al.)

Buy this book

eBook 181,89 €
price for Spain (gross)
  • ISBN 978-3-540-28962-3
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
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Bibliographic Information

Bibliographic Information
Book Title
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases
Editors
  • Nenad Blau
  • Georg F. F. Hoffmann
  • J.V. Leonard
  • Joe T. R. Clarke
Copyright
2006
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-540-28962-3
DOI
10.1007/3-540-28962-3
Edition Number
1
Number of Pages
XVIII, 416
Number of Illustrations
13 b/w illustrations
Topics