TY  - BOOK
AU  - Glew,Robert H.
AU  - Rosenthal,Miriam D.
TI  - Clinical studies in medical biochemistry
SN  - 9780199749096
AV  - RB112.5 .C57 2007eb
U1  - 612/.015 22
PY  - 2007///
CY  - New York
PB  - Oxford University Press
KW  - Clinical biochemistry
KW  - Case studies
KW  - Biochemistry
KW  - Metabolism
KW  - Disorders
KW  - Laboratory Techniques and Procedures
KW  - Metabolic Diseases
KW  - Biochimie clinique
KW  - Études de cas
KW  - Biochimie
KW  - Troubles du métabolisme
KW  - biochemistry
KW  - aat
KW  - MEDICAL
KW  - bisacsh
KW  - fast
KW  - Electronic books
KW  - Case Reports
N1  - Includes bibliographical references and index; 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
N2  - 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
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ER  -