A Clinical Guide to Inherited Metabolic Diseases
Book 1
Book 2
Book 3
Book 1
Book 2
Book 3
Book 1
Book 2
Book 3
Book 1
Book 2
Book 3
Home > Medicine & Health Science textbooks > Medical specialties, branches of medicine > Paediatric medicine > A Clinical Guide to Inherited Metabolic Diseases
A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases


     0     
5
4
3
2
1



Out of Stock


Notify me when this book is in stock
X
About the Book

This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis. It is a well-illustrated text that is organized around the clinical presentation of the disease. Biochemical and metabolic concepts are presented in a clinically relevant context. It functions to complement more traditional textbooks which are organized biochemically. The book serves as an entrance to the discipline, to help non-expert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems. This new edition has been expanded to include substantially more on mitochondrial diseases, new imaging techniques, and new techniques for screening and diagnosis.

Table of Contents:
Preface; Foreword Charles Scriver; 1. General principles; 2. Neurologic syndrome; 3. Metabolic acidosis; 4. Hepatic syndrome; 5. Cardiac syndromes; 6. Storage syndrome and dysmorphism; 7. Acute metabolic illness in the newborn; 8. Newborn screening; 9. Laboratory investigation; 10. Treatment; Index.

About the Author :
Author of A Clinical Guide to Inherited Metabolic Diseases (1996). Author or co-author of over 130 original articles in the medical scientific literature. Winner of the Harry Bain Award for Clinical Teaching, the most prestigious award for teaching granted by the Hospital for Sick Children Winner of the Charles Rowe Award for Excellence in Pediatric Clinical Care, the most prestigious award for clinical care granted by the Hospital for Sick Children.

Review :
Review of the first edition '… should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders.' American Journal of Medical Genetics 'The writing is lucid, direct and salted with personal observations. Clarke's teaching skills shine forth from each page … It succeeds admirably, effectively demystifying the anxiety-provoking world of inherited biochemical illness.' Canadian Medical Association Journal 'If your clinical work brings you into contact with patients who may be hiding an inherited metabolic disease, Clarke's guide is for you. Clearly it will be of greatest help to paediatricians.' Journal of the Royal Society of Medicine 'J. T. R. Clarke has performed the amazing feat of distilling practical knowledge about the diagnosis of metabolic diseases into a small, yet ultimately pragmatic 280-page clinical guide. … On the whole, I found this to be an amazing book which contains a vast amount of information presented in a concise, logical and well-organized fashion. … I would recommend this book wholeheartedly to anyone involved in the diagnosis of inherited metabolic diseases.' Journal of Genetic Counseling 'This book's strength lies in its simple straightforward clinical approach to this difficult area of medicine.' Doctors.net.uk 'To guide the physician in this assessment, a compact volume such as has been written by Dr Clark is invaluable. Dr Clark has succeeded in providing the reader with a user-friendly, inexpensive book that is up-to-date, and provides directions for further reading … this is a good practical and instructive book, and I hope that it will find its way into the hands of a large number of paediatricians and paediatric neurologists. European Journal of Paediatric Neurology 'An excellent book for physicians who find inherited metabolic disorders intimidating, this book is also an excellent source for those who already care for patients with these disorders and would like to solidify their understanding of basic principles.' Practice 'Dr Clark's enthusiasm and erudition are evident on every page of this book, which is handily sized and, wonder of wonders, costs only £30.' www.archdischild.com '… this is a good practical and instructive book, and I hope that it will find its way into the hands of a large number of paediatricians and paediatric neurologists.' European Journal of Paediatric Neurology 'The book is well written and contains a wealth of experience organised in a practical way … I feel the book fulfils its aim as 'a clinical guide' and provides a coherent framework for those who wish to learn more about metabolic disease.' Neuromuscular Disorders


Best Sellers


Product Details
  • ISBN-13: 9780521890762
  • Publisher: Cambridge University Press
  • Publisher Imprint: Cambridge University Press
  • Edition: Revised edition
  • Language: English
  • Returnable: N
  • Returnable: N
  • Spine Width: 23 mm
  • Width: 173 mm
  • ISBN-10: 0521890764
  • Publisher Date: 11 Jul 2002
  • Binding: Paperback
  • Height: 247 mm
  • No of Pages: 306
  • Returnable: N
  • Returnable: N
  • Weight: 632 gr


Similar Products

Add Photo
Add Photo

Customer Reviews

REVIEWS      0     
Click Here To Be The First to Review this Product
A Clinical Guide to Inherited Metabolic Diseases
Cambridge University Press -
A Clinical Guide to Inherited Metabolic Diseases
Writing guidlines
We want to publish your review, so please:
  • keep your review on the product. Review's that defame author's character will be rejected.
  • Keep your review focused on the product.
  • Avoid writing about customer service. contact us instead if you have issue requiring immediate attention.
  • Refrain from mentioning competitors or the specific price you paid for the product.
  • Do not include any personally identifiable information, such as full names.

A Clinical Guide to Inherited Metabolic Diseases

Required fields are marked with *

Review Title*
Review
    Add Photo Add up to 6 photos
    Would you recommend this product to a friend?
    Tag this Book Read more
    Does your review contain spoilers?
    What type of reader best describes you?
    I agree to the terms & conditions
    You may receive emails regarding this submission. Any emails will include the ability to opt-out of future communications.

    CUSTOMER RATINGS AND REVIEWS AND QUESTIONS AND ANSWERS TERMS OF USE

    These Terms of Use govern your conduct associated with the Customer Ratings and Reviews and/or Questions and Answers service offered by Bookswagon (the "CRR Service").


    By submitting any content to Bookswagon, you guarantee that:
    • You are the sole author and owner of the intellectual property rights in the content;
    • All "moral rights" that you may have in such content have been voluntarily waived by you;
    • All content that you post is accurate;
    • You are at least 13 years old;
    • Use of the content you supply does not violate these Terms of Use and will not cause injury to any person or entity.
    You further agree that you may not submit any content:
    • That is known by you to be false, inaccurate or misleading;
    • That infringes any third party's copyright, patent, trademark, trade secret or other proprietary rights or rights of publicity or privacy;
    • That violates any law, statute, ordinance or regulation (including, but not limited to, those governing, consumer protection, unfair competition, anti-discrimination or false advertising);
    • That is, or may reasonably be considered to be, defamatory, libelous, hateful, racially or religiously biased or offensive, unlawfully threatening or unlawfully harassing to any individual, partnership or corporation;
    • For which you were compensated or granted any consideration by any unapproved third party;
    • That includes any information that references other websites, addresses, email addresses, contact information or phone numbers;
    • That contains any computer viruses, worms or other potentially damaging computer programs or files.
    You agree to indemnify and hold Bookswagon (and its officers, directors, agents, subsidiaries, joint ventures, employees and third-party service providers, including but not limited to Bazaarvoice, Inc.), harmless from all claims, demands, and damages (actual and consequential) of every kind and nature, known and unknown including reasonable attorneys' fees, arising out of a breach of your representations and warranties set forth above, or your violation of any law or the rights of a third party.


    For any content that you submit, you grant Bookswagon a perpetual, irrevocable, royalty-free, transferable right and license to use, copy, modify, delete in its entirety, adapt, publish, translate, create derivative works from and/or sell, transfer, and/or distribute such content and/or incorporate such content into any form, medium or technology throughout the world without compensation to you. Additionally,  Bookswagon may transfer or share any personal information that you submit with its third-party service providers, including but not limited to Bazaarvoice, Inc. in accordance with  Privacy Policy


    All content that you submit may be used at Bookswagon's sole discretion. Bookswagon reserves the right to change, condense, withhold publication, remove or delete any content on Bookswagon's website that Bookswagon deems, in its sole discretion, to violate the content guidelines or any other provision of these Terms of Use.  Bookswagon does not guarantee that you will have any recourse through Bookswagon to edit or delete any content you have submitted. Ratings and written comments are generally posted within two to four business days. However, Bookswagon reserves the right to remove or to refuse to post any submission to the extent authorized by law. You acknowledge that you, not Bookswagon, are responsible for the contents of your submission. None of the content that you submit shall be subject to any obligation of confidence on the part of Bookswagon, its agents, subsidiaries, affiliates, partners or third party service providers (including but not limited to Bazaarvoice, Inc.)and their respective directors, officers and employees.

    Accept

    Fresh on the Shelf


    Inspired by your browsing history


    Your review has been submitted!

    You've already reviewed this product!