Skip to content
Register Sign in Wishlist
A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases

3rd Edition

$162.00 (G)

  • Date Published: January 2006
  • availability: Available
  • format: Paperback
  • isbn: 9780521614993

$ 162.00 (G)

Add to cart Add to wishlist

Other available formats:

Looking for an examination copy?

If you are interested in the title for your course we can consider offering an examination copy. To register your interest please contact providing details of the course you are teaching.

Product filter button
About the Authors
  • This user-friendly clinical handbook provides a clear and concise overview of how to recognize and diagnose inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The new edition provides more in-depth coverage on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as well as those on laboratory investigation and treatment.

    • Organized clinically, rather than biochemically
    • Well-written and well-balanced in terms of content
    • Easy for the non-expert to read and understand
    Read more

    Reviews & endorsements

    " is very readable and would be a valuable addition to the library of anyone involved in genetic counseling, nurses who care for patients with inherited metabolic disease and those involved in newborn screening."
    Nursing Standard, June 2006

    Customer reviews

    Not yet reviewed

    Be the first to review

    Review was not posted due to profanity


    , create a review

    (If you're not , sign out)

    Please enter the right captcha value
    Please enter a star rating.
    Your review must be a minimum of 12 words.

    How do you rate this item?


    Product details

    • Edition: 3rd Edition
    • Date Published: January 2006
    • format: Paperback
    • isbn: 9780521614993
    • length: 360 pages
    • dimensions: 247 x 171 x 19 mm
    • weight: 0.57kg
    • contains: 60 b/w illus.
    • availability: Available
  • Table of Contents

    Preface to third edition
    1. General principles
    2. Neurologic syndrome
    3. Metabolic acidosis
    4. Hepatic syndrome
    5. Cardiac syndromes
    6. Storage syndromes and dysmorphism
    7. Acute metabolic illness in the newborn
    8. New born screening
    9. Laboratory investigation
    10. Treatment

  • Author

    Joe T. R. Clarke, University of Toronto

Sign In

Please sign in to access your account


Not already registered? Create an account now. ×

Sorry, this resource is locked

Please register or sign in to request access. If you are having problems accessing these resources please email

Register Sign in
Please note that this file is password protected. You will be asked to input your password on the next screen.

» Proceed

You are now leaving the Cambridge University Press website. Your eBook purchase and download will be completed by our partner Please see the permission section of the catalogue page for details of the print & copy limits on our eBooks.

Continue ×

Continue ×

Continue ×

Find content that relates to you

Join us online

This site uses cookies to improve your experience. Read more Close

Are you sure you want to delete your account?

This cannot be undone.


Thank you for your feedback which will help us improve our service.

If you requested a response, we will make sure to get back to you shortly.

Please fill in the required fields in your feedback submission.