A Clinical Guide to Inherited Metabolic Diseases
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Estimated delivery time: In stock at the publisher, but not at Prospero's office. Delivery time approx. 3-5 weeks.
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Delivery time is estimated on our previous experiences. We give estimations only, because we order from outside Hungary, and the delivery time mainly depends on how quickly the publisher supplies the book. Faster or slower deliveries both happen, but we do our best to supply as quickly as possible.
Product details:
- Edition number 3, Revised
- Publisher Cambridge University Press
- Date of Publication 8 December 2005
- ISBN 9780521614993
- Binding Paperback
- No. of pages360 pages
- Size 246x174x17 mm
- Weight 707 g
- Language English
- Illustrations 60 b/w illus. 0
Categories
Short description:
This user-friendly clinical handbook provides an overview of how to go about recognizing and diagnosing inherited metabolic diseases.
MoreLong description:
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing 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 book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
'... should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders.' American Journal of Medical Genetics
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.
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