Title | Human Pathobiochemistry [electronic resource] : From Clinical Studies to Molecular Mechanisms / edited by Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka |
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Imprint | Singapore : Springer Singapore : Imprint: Springer, 2019 |
Edition | 1st ed. 2019 |
Connect to | https://doi.org/10.1007/978-981-13-2977-7 |
Descript | XI, 349 p. 167 illus., 113 illus. in color. online resource |
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