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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.Read more
- Organized clinically, rather than biochemically
- Well-written and well-balanced in terms of content
- Easy for the non-expert to read and understand
Reviews & endorsements
"...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
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- Edition: 3rd Edition
- Date Published: January 2006
- format: Paperback
- isbn: 9780521614993
- length: 360 pages
- dimensions: 244 x 170 x 19 mm
- weight: 0.57kg
- contains: 60 b/w illus.
- availability: Manufactured on demand: supplied direct from the printer
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
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