Clinical Studies in Medical Biochemistry

Clinical Studies in Medical Biochemistry

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This text uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 33 cases are carefully selected to cover key concepts and common diseases. Each chapter provides a specific patient report that includes the relevant history, pertinent clinical laboratory data, physical findings, and subsequent diagnosis. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. In this third edition of the book, a new co-editor has aided in the substantially revised and more targeted selection of cases. The whole volume is now clearly focused on intermediary metabolism and other topics central to biochemistry. There are new chapters on topics such as collagen structure, mitochondrial metabolism, and hyperhomocysteinemia and vascular disease. There is also more coverage of nutrional biochemistry, including new chapters on protein-calorie malnutrition, obesity, vitamin A deficiency, and iron metabolism. The best cases were retained from the previous edition, and have been completely rewritten and updated to include recent advances in diagnostic biochemistry and the status of current therapies. Although the first edition was intended primarily for medical students, through the years the book has proven useful for a wide variety of students interested in the health science professions.show more

Product details

  • Hardback | 392 pages
  • 180.3 x 254 x 22.9mm | 816.48g
  • Oxford University Press Inc
  • New York, United States
  • English
  • Revised
  • 3rd Revised edition
  • 0195176871
  • 9780195176872

Table of contents

PART I: NUCLEIC ACIDS AND PROTEIN STRUCTURE AND FUNCTION ; 1. Fragile X Syndrome ; 2. Sickle Cell Anemia ; 3. Osteogenesis Imperfecta ; 4. a1-Antitrypsin Deficiency ; 5. Cardiac Troponin: Clinical and Analytical Role in the Diagnosis of Myocardial Infarction and Risk Stratification of Acute Coronary Syndrome Patients ; 6. Hereditary Spherocytosis ; PART II: FUEL METABOLISM AND ENERGETICS ; 7. Pyruvate Dehydrogenase Complex Deficiency ; 8. Mitochondrial Encephalomyopathy, Lactic Acidos, and Stroke-Like Episodes (MELAS): A Case of Mitochondrail Disease ; 9. Systemic Carnitine Deficiency ; 10. Neonatal Hypoglycemia and the Importance of Gluconeogenesis ; PART III: INTERMEDIARY METABOLISM ; 11. Glucose-6-Phosphate Dehydrogenase Deficiency ; 12. Biotin and Multiple Carboxylase Deficiency ; 13. Adrenoleukodystrophy ; 14. Low Density Lipprotein Receptors and Familial Hypercholesterolemia ; 15. Tangier Disease: A Disorder in the Reverse Cholesterol Transport Pathway ; 16. Gaucher Disease ; 17. I-Cell Disease ; 18. Inborn Errors of Urea Synthesis ; 19. Phenylketonuria ; 20. HMG-CoA Lyase Deficiency ; 21. Hyperhomocysteinemia ; 22. Neonatal Jaundice ; PART IV: DIGESTION, ABSORPTION, AND NUTRITIONAL BIOCHEMISTRY ; 23. Obesity: Unfortunately a Growing Problem ; 24. Protein Energy Malnutrition ; 25. Lactose Intolerance ; 26. Pancreatic Insufficiency Secondary to Chronic Pancreatitis ; 27. Abetalipoproteinemia ; 28. Pernicious Anemia ; 29. Vitamin A Deficiency in Children ; 30. Calcium Deficiency Rickets ; 31. Hereditary Hemochromatosis ; PART V: ENDOCRINOLOGY AND INTEGRATION OF METABOLISM ; 32. Type I Diabetes Mellitus ; 33. Congenital Adrenal Hyperplasia: P440 C21 Steroid Hydroxylase Deficiencyshow more

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