Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis
Editat de Russell Saneto, Sumit Parikh, Bruce H Cohenen Limba Engleză Hardback – 4 dec 2015
- Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis
- Provides information on underlying mechanisms of mitochondrial disease
- Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
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Specificații
ISBN-13: 9780128008775
ISBN-10: 0128008776
Pagini: 338
Dimensiuni: 152 x 229 x 23 mm
Greutate: 0.68 kg
Editura: ELSEVIER SCIENCE
ISBN-10: 0128008776
Pagini: 338
Dimensiuni: 152 x 229 x 23 mm
Greutate: 0.68 kg
Editura: ELSEVIER SCIENCE
Cuprins
1. Clinical Correlates of Mitochondrial Physiology and Disease
2. MELAS-encoded diseases
3. MELAS-(classic presentation)
4. MERRF
5. Pearson Syndrome
6. Kearn-Sayre Syndrome
7. Chronic Progressive External Ophthalmoplegia
8. Leber Hereditary Optic Neuropathy
9. Leigh Syndrome
10. NARP
11. Maternal Inherited Diabetes
12. Sporadic Myopathy
13. Pyruvate Dehydrogenase Complex Deficiencies
14. Friedreich Ataxia
15. Leigh Syndrome
16. Reversible Myopathy
17. Childhood Alpers-Huttenlocher Syndrome
18. Juvenile Alpers-Huttenlocher Syndrome
19. Autosomal dominant Progressive External Ophthalmoplegia
20. c10orf2 (Twinkle)
21. MPV17/Deoxyguanosine Kinase
22. RRM2B
23. Mitochondrial Nasogastric Intestinal Encephalopathy
24. Thymidine Kinase
25. OPA1
26. MFN2
27. Aminoacyl-tRNA synthetase (CNS)
28. Aminoacyl-tRNA synthetase (Non-CNS)
29. MTO1
30. Complex I
31. Complex II
32. Complex III (GRACILE)
33. Complex IV
34. Complex V
35. Coenzyme Q10 (Primary Brain)
36. Coenzyme Q10 (Primary Renal)
2. MELAS-encoded diseases
3. MELAS-(classic presentation)
4. MERRF
5. Pearson Syndrome
6. Kearn-Sayre Syndrome
7. Chronic Progressive External Ophthalmoplegia
8. Leber Hereditary Optic Neuropathy
9. Leigh Syndrome
10. NARP
11. Maternal Inherited Diabetes
12. Sporadic Myopathy
13. Pyruvate Dehydrogenase Complex Deficiencies
14. Friedreich Ataxia
15. Leigh Syndrome
16. Reversible Myopathy
17. Childhood Alpers-Huttenlocher Syndrome
18. Juvenile Alpers-Huttenlocher Syndrome
19. Autosomal dominant Progressive External Ophthalmoplegia
20. c10orf2 (Twinkle)
21. MPV17/Deoxyguanosine Kinase
22. RRM2B
23. Mitochondrial Nasogastric Intestinal Encephalopathy
24. Thymidine Kinase
25. OPA1
26. MFN2
27. Aminoacyl-tRNA synthetase (CNS)
28. Aminoacyl-tRNA synthetase (Non-CNS)
29. MTO1
30. Complex I
31. Complex II
32. Complex III (GRACILE)
33. Complex IV
34. Complex V
35. Coenzyme Q10 (Primary Brain)
36. Coenzyme Q10 (Primary Renal)