Ebook A Clinical Guide to Inherited Metabolic Diseases, by Joe T. R. Clarke
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A Clinical Guide to Inherited Metabolic Diseases, by Joe T. R. Clarke
Ebook A Clinical Guide to Inherited Metabolic Diseases, by Joe T. R. Clarke
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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.
- Sales Rank: #689378 in Books
- Published on: 2006-01-30
- Original language: English
- Number of items: 1
- Dimensions: 9.72" h x .75" w x 6.85" l, 1.25 pounds
- Binding: Paperback
- 360 pages
Review
"...it 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
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.
Most helpful customer reviews
6 of 6 people found the following review helpful.
Excellent
By A Customer
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.
Finally, the metabolic book I've always wanted
By Preston Herrington
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.
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