Genetic Biochemical Disorders

Rapid progress has been made in recent years in both the diagnostic methodology for and the therapy of genetic biochemical disorders. This book serves as a comprehensive source of information for clinicians and laboratory staff.

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The very rapid advances in biochemical technology recently have helped identify the basic defect in about 250 genetic disorders. Early precide diagnosis is essential before therapy can be identified which will lead to survival and normal development. This book describes clinical, pathological, and biochemical features, diagnostic methodology, and the necessary data for genetic counselling.