Human Pathobiochemistry

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. 1-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.

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

"The book's emphasis is on its role and importance in 'bench-to-bedside' training of healthcare professionals with the hope that this approach will have wide appeal in many disciplines related to pathobiochemistry. ... This unique book combines biochemistry with molecular biology and presents various disorders in a case study format. This is indeed a unique strategy to present complex information. I am quite confident that medical students, researchers, clinicians and other healthcare professionals will find this book very useful." (Omer Iqbal, Doody's Book Reviews, 27 September, 2019)