A Clinical Guide to Inherited Metabolic Diseases

ISBN-13: 9780521614993 / Angielski / Miękka / 2005 / 360 str.

Joe T. R. Clarke

Opis

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.

Recenzje

'… excellent and very readable book … The concise but comprehensive nature of this book makes it a must have on the book shelf for those working in clinical biochemistry. Of all the books on metabolic diseases on my desk this is the one that is always missing!' Human Genetics

Spis treści

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.