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. 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…mehr
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.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.
* Part I: Nucleic Acids and Protein Structure and Function * 1: Yuji Yokoyama, Shinsuke Ninomiya, and Koji Narahara: Fragile X Syndrome * 2: Keith Quirolo and Elliott Vichinsky: Sickle Cell Anemia * 3: Sergey Leikin and Armando Flor-Cisneros: Osteogenesis Imperfecta * 4: Sarah Jane Schwarzenberg and Harvey L. Sharp: a1-Antitrypsin Deficiency * 5: Fred S. Apple and Allan S. Jaffe: Cardiac Troponin: Clinical and Analytical Role in the Diagnosis of Myocardial Infarction and Risk Stratification of Acute Coronary Syndrome Patients * 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 * 10: Ian R. Holzman and J. Ross Milley: Neonatal Hypoglycemia and the Importance of Gluconeogenesis * Part III: Intermediary Metabolism * 11: Catherine Burton and Richard Kaczmarski: Glucose-6-Phosphate Dehydrogenase Deficiency * 12: Barry Wolf: Biotin and Multiple Carboxylase Deficiency * 13: Margaret M. McGovern: Adrenoleukodystrophy * 14: Daniel J. Rader and Marina Cuchel: Low Density Lipprotein 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 * 18: Michael T. Geraghty and Pranesh Chakraborty: 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: Steven R. Lentz and Angela M. Devlin: Hyperhomocysteinemia * 22: Jeffrey C. Fahl and David L. VanderJagt: Neonatal Jaundice * Part IV: Digestion, Absorption, and Nutritional Biochemistry * 23: Miriam D. Rosenthal and Lawrence M. Pasquinelli: Obesity: Unfortunately 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: M. Mahmood Hussain and Paul Rava: Abetalipoproteinemia * 28: Dorothy J. VanderJagt and Denis M. McCarthy: Pernicious Anemia * 29: William S. Blaner, Nuttaporn Wongsirioj, and Emorn Wasantwisut: 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: Mark R. Burge, Srinivas Panja, and Aruna Chelliah: Type I Diabetes Mellitus * 33: Miriam D. Rosenthal and Geral J. Pepe: Congenital Adrenal Hyperplasia: P440 C21 Steroid Hydroxylase Deficiency
* Part I: Nucleic Acids and Protein Structure and Function * 1: Yuji Yokoyama, Shinsuke Ninomiya, and Koji Narahara: Fragile X Syndrome * 2: Keith Quirolo and Elliott Vichinsky: Sickle Cell Anemia * 3: Sergey Leikin and Armando Flor-Cisneros: Osteogenesis Imperfecta * 4: Sarah Jane Schwarzenberg and Harvey L. Sharp: a1-Antitrypsin Deficiency * 5: Fred S. Apple and Allan S. Jaffe: Cardiac Troponin: Clinical and Analytical Role in the Diagnosis of Myocardial Infarction and Risk Stratification of Acute Coronary Syndrome Patients * 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 * 10: Ian R. Holzman and J. Ross Milley: Neonatal Hypoglycemia and the Importance of Gluconeogenesis * Part III: Intermediary Metabolism * 11: Catherine Burton and Richard Kaczmarski: Glucose-6-Phosphate Dehydrogenase Deficiency * 12: Barry Wolf: Biotin and Multiple Carboxylase Deficiency * 13: Margaret M. McGovern: Adrenoleukodystrophy * 14: Daniel J. Rader and Marina Cuchel: Low Density Lipprotein 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 * 18: Michael T. Geraghty and Pranesh Chakraborty: 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: Steven R. Lentz and Angela M. Devlin: Hyperhomocysteinemia * 22: Jeffrey C. Fahl and David L. VanderJagt: Neonatal Jaundice * Part IV: Digestion, Absorption, and Nutritional Biochemistry * 23: Miriam D. Rosenthal and Lawrence M. Pasquinelli: Obesity: Unfortunately 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: M. Mahmood Hussain and Paul Rava: Abetalipoproteinemia * 28: Dorothy J. VanderJagt and Denis M. McCarthy: Pernicious Anemia * 29: William S. Blaner, Nuttaporn Wongsirioj, and Emorn Wasantwisut: 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: Mark R. Burge, Srinivas Panja, and Aruna Chelliah: Type I Diabetes Mellitus * 33: Miriam D. Rosenthal and Geral J. Pepe: Congenital Adrenal Hyperplasia: P440 C21 Steroid Hydroxylase Deficiency
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