Human pathobiochemistry : from clinical studies to molecular mechanisms / Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka, editors.
Material type: TextPublisher: New York, NY : Springer, 2019Description: xi, 349 pages : illustrations, 26 cmISBN:- 9789811329760 (hbk.)
- 612.015 HUM
Item type | Current library | Collection | Call number | Status | Date due | Barcode | |
---|---|---|---|---|---|---|---|
Books | H.T. Parekh Library | SIAS Collection | 612.015 HUM (Browse shelf(Opens below)) | Available | K3674 |
Euro : 119.99/-
TBH86/102
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.
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