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Klappentext 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 comprehensivediscussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Zusammenfassung 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. Each chapter provides a specific patient report that includes the relevant history, pertinent clinical laboratory data, physical findings, and subsequent diagnosis. Inhaltsverzeichnis Part I: Nucleic Acids and Protein Structure and Function 1: Yuji Yokoyama, Shinsuke Ninomiya, and Koji Narahara: Fragile X Syndrome 2: Keith Quirolo: Sickle Cell Anemia 3: Armando Flor-Cisneros and Sergey Leikin: Osteogenesis Imperfecta 4: Sarah Jane Schwarzenberg and Harvey L. Sharp: a1-Antitrypsin Deficiency 5: Fred S. Apple and Allan S. Jaffe: Cardiac Troponin: Clinical Role in the Diagnosis of Myocardial Infarction 6: Hiroshi Ideguchi: Hereditary Spherocytosis Part II: Fuel Metabolism and Energetics 7: Peter W. Stacpoole and Lesa R. Gilbert: Pyruvate Dehydrogenase Complex Deficiency 8: Frank J. Castora: Mitochondrial Encephalomyopathy, Lactic Acidos, and Stroke-Like Episodes (MELAS): A Case of Mitochondrail Disease 9: Eric P. Brass, Harbhajan S. Paul, and Gail Sekas: Systemic Carnitine Deficiency: A Treatable Disorder 10: Ian R. Holzman and J. Ross Milley: Neonatal Hypoglycemia and the Importance of Gluconeogenesis Part III: Intermediary Metabolism n 11 12: Barry Wolf: Biotinidase Deficiency: A Biotin-Responsive Disorder 13: Margaret M. McGovern: Adrenoleukodystrophy 14: Marina Cuchel and Daniel J. Rader: Low-Density Lipoprotein Receptors and Familial Hypercholesterolemia 15: Lien B. Lai, Vijayaprasad Gopichandran, and Venkat Gopalan: Tangier Disease: A Disorder in the Reverse Cholesterol Transport Pathway 16: William C. Hines and Robert H. Glew: Gaucher Disease 17: James Chambers: I-Cell Disease (Mucolipidosis II) 18: Pranesh Chakraborty and Michael T. Geraghty: Inborn Errors of Urea Synthesis 19: William L. Anderson and Steven M. Mitchell: Phenylketonuria 20: Virginia K. Proud and Miriam D. Rosenthal: HMG-CoA Lyase Deficiency 21: Angela M. Devlin and Steven R. Lentz: Hyperhomocysteinemia 22: Jeffrey C. Fahl and David L. Vanderjagt: Neonatal Hyperbilirubinemia Part IV: Digestion, Absorption, and Nutritional Biochemistry 23: Miriam D. Rosenthal and Lawrence M. Pasquinelli: Obesity: A Growing Problem 24: Vijayaprasad Gopichandran, Lien B. Lai, and Venkat Gopalan: Protein-Energy Malnutrition 25: Marcy P. Osgood and Abiodun O. Johnson: Lactose Intolerance 26: Peter Layer and Jutta Keller: Pancreatic Insufficiency Secondary to Chronic Pancreatitis 27: Paul Rava and M. Mahmood Hussain: Abetalipoproteinemia 28: Dorothy J. Vanderjact and Denis M. McCarthy: Vitamin B12 Deficiency 29: Nuttaporn Wongsiriroj, Emorn Wasantwisut, and William S. Blaner: Vitamin A Deficiency in Children 30: Dorothy J. VanderJagt and Robert H. Glew: Calcium-Deficiency Rickets 31: Scott A. Fink and Raymond T. Chung: Hereditary Hemochromatosis Part V: Endocrinology and Integration of Metabolism 32: Srinivas Panja, Aruna Chelliah, and Mark R. Burge: Type I Diabetes Mellitus 33: Gerald J. Pepe and Miriam D. Rosenthal: Congenital Adrenal Hyperplasia: P450c21 Steroid Hydroxylase Deficiency ...
