A Clinical Guide to Inherited Metabolic Diseases [Paperback]

Joe T. R. Clarke (Author)

Book Description

Publication Date: August 5, 2002 | ISBN-10: 0521890764 | ISBN-13: 978-0521890762 | Edition: 2

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.

Editorial Reviews

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

Book Description

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.

See all Editorial Reviews

Product Details

• Paperback: 306 pages
• Publisher: Cambridge University Press; 2 edition (August 5, 2002)
• Language: English
• ISBN-10: 0521890764
• ISBN-13: 978-0521890762
• Product Dimensions: 9.8 x 6.8 x 0.8 inches
• Shipping Weight: 1.4 pounds
• Average Customer Review: 5.0 out of 5 stars  See all reviews (2 customer reviews)
• Amazon Best Sellers Rank: #3,332,782 in Books (See Top 100 in Books)

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Customer Reviews

Most Helpful Customer Reviews

6 of 6 people found the following review helpful:

5.0 out of 5 stars Excellent, July 2, 1999

By A Customer

This review is from: A Clinical Guide to Inherited Metabolic Diseases (Paperback)

Excellent review of strategies for the evaluation of suspected inborn errors of metabolism. Simple and eloquent writing makes this an exceptional introduction to the topic for students, residents and fellows. Organized by organ system and symptom complex, it makes for easy referencing to generate a differential diagnosis as well. Would highly recommend for genetics, neurology and pediatrics training programs. It will be instituted into our required reading for rotating residents in our Child Neurology department. The price is very reasonable and well within the means of trainees.

2 of 2 people found the following review helpful:

5.0 out of 5 stars Finally, the metabolic book I've always wanted, May 12, 2007

By 

Preston Herrington "chess doc" (Farmington, NM USA) - See all my reviews
(REAL NAME)   

This review is from: A Clinical Guide to Inherited Metabolic Diseases (Paperback)

I'm almost half-way through this book, and for the first time I'm understanding the concepts behind metabolic diseases. Rather than overwhelming the reader with biochemistry, the author helps organize the diseases into practical categories and emphasizes concepts rather than details. This book is a good read, plus it will serve as an excellent resource for future reference. Highly recommended for any primary care provider who cares for infants and children.