Clinical studies in medical biochemistry / edited by Robert H. Glew and Miriam D. Rosenthal.

Format:

Book

Contributor:

Glew, Robert H., editor.

Rosenthal, Miriam D., editor.

Series:

Oxford scholarship online.

Oxford scholarship online

Language:

English

Subjects (All):

Clinical biochemistry--Case studies.

Clinical biochemistry.

Biochemistry.

Clinical Laboratory Techniques.

Metabolic Diseases.

Medical Subjects:

Biochemistry.

Clinical Laboratory Techniques.

Metabolic Diseases.

Physical Description:

1 online resource (388 p.)

Edition:

3rd ed.

Place of Publication:

Oxford : Oxford University Press, 2023.

Language Note:

English

Summary:

This edition uses actual clinical cases to illustrate important principles of biochemistry and molecular biology in the context of human disease. The format of each chapter remains the same - case presentation, diagnosis, therapy and references.

Contents:

Contents; Contributors; Part I: Nucleic Acids and Protein Structure and Function; 1. Fragile X Syndrome; 2. Sickle Cell Anemia; 3. Osteogenesis Imperfecta; 4. α[sub(1)]-Antitrypsin Deficiency; 5. Cardiac Troponin: Clinical Role in the Diagnosis of Myocardial Infarction; 6. Hereditary Spherocytosis; Part II: Fuel Metabolism and Energetics; 7. Pyruvate Dehydrogenase Complex Deficiency; 8. Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): A Case of Mitochondrial Disease; 9. Systemic Carnitine Deficiency: A Treatable Disorder

10. Neonatal Hypoglycemia and the Importance of GluconeogenesisPart III: Intermediary Metabolism; 11. Glucose 6-Phosphate Dehydrogenase Deficiency and Oxidative Hemolysis; 12. Biotinidase Deficiency: A Biotin-Responsive Disorder; 13. Adrenoleukodystrophy; 14. Low-Density Lipoprotein Receptors and Familial Hypercholesterolemia; 15. Tangier Disease: A Disorder in the Reverse Cholesterol Transport Pathway; 16. Gaucher Disease: A Sphingolipidosis; 17. I-Cell Disease (Mucolipidosis II); 18. Inborn Errors of Urea Synthesis; 19. Phenylketonuria; 20. HMG-CoA Lyase Deficiency; 21. Hyperhomocysteinemia

22. Neonatal HyperbilirubinemiaPart IV: Digestion, Absorption, and Nutritional Biochemistry; 23. Obesity: A Growing Problem; 24. Protein-Energy Malnutrition; 25. Lactose Intolerance; 26. Pancreatic Insufficiency Secondary to Chronic Pancreatitis; 27. Abetalipoproteinemia; 28. Vitamin B[sub(12)] Deficiency; 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: P450c21 Steroid Hydroxylase Deficiency; Index; A; B; C; D; E; F; G; H

IJ; K; L; M; N; O; P; R; S; T; U; V; X

Notes:

Formerly CIP.

Previously issued in print: 2006.

Includes bibliographical references and index.

Derived record based on print version record and publisher information.

ISBN:

0-19-770607-X

1-280-84500-7

9786610845002

0-19-974909-4

1-4294-0288-1

OCLC:

855726334