A Clinical Guide to Inherited Metabolic Diseases
A Clinical Guide to Inherited Metabolic Diseases
$179.00
USDThis 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
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
Product details
January 2006Paperback
9780521614993
360 pages
246 × 174 × 17 mm
0.707kg
60 b/w illus.
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
- Index.
