A clinical guide to inherited metabolic diseases
著者
書誌事項
A clinical guide to inherited metabolic diseases
Cambridge University Press, 1996
- : hbk
- : pbk
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注記
Includes bibliographical references
内容説明・目次
内容説明
This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where one goes from here to establish a diagnosis. The well-illustrated text is organised around the clinical presentation of the disease, to facilitate rapid diagnosis, and then clearly explains how to go about identifying the underlying biochemical and genetic lesion. It will therefore complement those more traditional textbooks of metabolic disease which are organised biochemically, but which are of less practical use in the doctor's clinic or surgery. The book is intended to serve as an entrance to the discipline, to help nonexpert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems.
目次
- Preface
- 1. General principles
- 2. Neurologic syndrome
- 3. Hyperphenylalaninemia and screening for PKU
- 4. Metabolic acidosis
- 5. Hepatic syndrome
- 6. Cardiac syndromes
- 7. Storage syndrome and dysmorphism
- 8. Acute metabolic illness in the newborn
- 9. Laboratory investigation
- 10. Treatment
- Index.
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