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Book, Software, and Web Site Reviews |
Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR
| The first 20% of the full text of this article appears below. |
Although many textbooks are available on inherited metabolic diseases, they are usually big in size and unapproachable. Dr. Clarke has done an amazing task in providing this handy guide of approximately 300 pages on how to diagnose inherited metabolic diseases. Just as tourists need a travel guide when visiting new places, pediatricians and laboratorians will use this clinical guide, which shows them the way to arrive at a diagnosis.
This book begins with a chapter on general principles of genetics, which serves as a quick review of basic medical sciences for clinicians. The next six chapters describe six groups of major presenting symptoms in inherited metabolic diseasesneurologic, acidosis,
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