| 000 | 02247nam a22002775i 4500 | ||
|---|---|---|---|
| 999 |
_c107619 _d107619 |
||
| 001 | 20843367 | ||
| 003 | OSt | ||
| 005 | 20201127165550.0 | ||
| 008 | 190207s2019 nyu 000 0 eng | ||
| 020 | _a9789811329760 (hbk.) | ||
| 040 |
_aDLC _beng _erda _cDLC |
||
| 042 | _apcc | ||
| 082 | _a612.015 HUM | ||
| 245 | 1 | 0 |
_aHuman pathobiochemistry : _bfrom clinical studies to molecular mechanisms / _cToshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka, editors. |
| 264 | 1 |
_aNew York, NY : _bSpringer, _c2019. |
|
| 300 | _axi, 349 pages : illustrations, 26 cm. | ||
| 500 | _aEuro : 119.99/- TBH86/102 | ||
| 505 | _aPart1. 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. | ||
| 650 |
_2Clinical biochemistry _aBiochemistry _vHuman physiology |
||
| 700 |
_aOohashi, Toshitaka; _eEditor |
||
| 700 |
_aTsukahara, Hirokazu; _eEditor |
||
| 700 |
_aRamirez, Francesco; _eEditor |
||
| 700 |
_aBarber, Chad L.; _eEditor |
||
| 700 |
_aOtsuka, Fumio; _eEditor |
||
| 942 |
_2ddc _cBK |
||