Human Pathobiochemistry

From Clinical Studies to Molecular Mechanisms

Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka (Herausgeber)

Buch | Hardcover

349 Seiten

2019 | 1st ed. 2019
Springer Verlag, Singapore
978-981-13-2976-0 (ISBN)

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This textbook 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 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. 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. Graphical diagrams are provided in each chapter for ease of comprehension.

Toshitaka Oohashi, Ph.D., Professor of Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan Hirokazu Tsukahara, M.D., Ph.D., Professor of Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan Francesco Ramirez, Ph.D., Professor of Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10029, USA Chad Barber, Ph.D., Assistant Professor of Biology: California Lutheran University, Thousand Oaks, CA 91360, USA Fumio Otsuka, M.D., Ph.D., Professor of Department of General Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan

Part1. Metabolic Disorders.- 1. Citrin Deficiency.- 2. Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria).- 3. Prominent Insulin Resistance in Congenital Generalized Lipoatrophy.- 4. Fabry Disease.- 5. Familial Hypercholesterolemia.- 6. Gaucher Disease.- 7. Heme Oxygenase-1 Deficiency.- 8. The Homocystinurias.- 9. Hypophosphatasia.- 10. Phenylketonuria.- 11. Triglyceride Deposit Cardiomyovasculopathy.- 12. Urea Cycle Disorders.- 13. Wilson Disease.- Part2. Genetics.- 14. Achondroplasia.- 15. Acute Myeloid Leukemia: Mutations Blocking Differentiation Lead to Distinct Leukemic Subtypes.- 16. α1-Antitrypsin Deficiency.- 17. Hereditary Anticoagulant Deficiencies.- 18. Cherubism.- 19. Cancer and Excess Iron.- 20. Fukuyama Congenital Muscular Dystrophy and Related Diseases.- 21. Hereditary Proteinuric Glomerular Disorders.- 22. Marfan Syndrome.- 23. When Materials Are at Fault: The Skeletal Collagens, Osteogenesis Imperfecta and Chondrodysplasias.- Part3. Others.- 24. Acute Kidney Injury: Transition to Chronic Kidney Disease.- 25. Type I Interferonopathies: Common Pathological Features Between Congenital Infections and Genetic Disorders.- 26. Epilepsy.- 27. Hemophagocytic Lymphohistiocytosis.- 28. Hepatitis C Virus Infection.- 29. Substance Abuse Emergencies.

Erscheinungsdatum	20.03.2019
Zusatzinfo	113 Illustrations, color; 54 Illustrations, black and white; XI, 349 p. 167 illus., 113 illus. in color.
Verlagsort	Singapore
Sprache	englisch
Maße	178 x 254 mm
Themenwelt	Medizin / Pharmazie ► Pharmazie
	Studium ► 1. Studienabschnitt (Vorklinik) ► Physiologie
	Studium ► 2. Studienabschnitt (Klinik) ► Pathologie
	Naturwissenschaften ► Biologie ► Biochemie
Schlagworte	Cancer • Genetic disorders • immunology • Metabolic disorders • Molecular mechanisms of disease
ISBN-10	981-13-2976-1 / 9811329761
ISBN-13	978-981-13-2976-0 / 9789811329760
Zustand	Neuware