راهنمای بالینی بیماری متابولیک A Clinical Guide to Inherited Metabolic Diseases
- نوع فایل : کتاب
- زبان : انگلیسی
- نویسنده : Joe T. R. Clarke
- ناشر : Cambridge University Press
- چاپ و سال / کشور: 2006
- شابک / ISBN : 9780521614993, 0521614996
Description
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.
