Author Description
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.
Menrva's Summary
THE THESIS
This monograph investigates the clinical and biochemical mechanisms underlying approximately 250 genetic disorders to facilitate early diagnosis and therapeutic intervention. Authors Anthony H. Fensom and Philip F. Benson leverage their expertise in medical genetics to synthesize complex biochemical data into a practical framework for clinicians. The text emphasizes the critical link between precise molecular identification and the subsequent development of effective treatment protocols for patients.
THE SCOPE MAP
What You Will Find
- Clinical and pathological profiles of 250 distinct genetic conditions
- Methodologies for biochemical diagnostic testing
- Data sets required for professional genetic counseling
Scope Limits
- Does not cover experimental gene therapies developed after the publication date
- Excludes non-biochemical genetic syndromes
THE AUTHORITY PERSPECTIVE
Medical professionals and researchers frequently cite this work as a foundational reference for understanding the biochemical basis of inherited disorders. Experts highlight the clinical utility of the diagnostic methodologies presented, noting that the text remains a standard resource for those involved in genetic counseling and clinical pathology.
Page Count:
600
Publication Date:
1986-01-16
Publisher:
Oxford University Press
ISBN-10:
0192611933
ISBN-13:
9780192611932
Reference
Genetics
Medical
Biochemistry