Russell Saneto,
Sumit Parikh,
Bruce H Cohen
Elsevier Science
e druk, 2015
9780128008775
Mitochondrial Case Studies
Underlying Mechanisms and Diagnosis
Specificaties
Gebonden, blz.
|
Engels
Elsevier Science |
e druk, 2015
ISBN13: 9780128008775
Rubricering
Levertijd ongeveer 8 werkdagen
Samenvatting
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments.
Specificaties
Inhoudsopgave
<p>1. Clinical Correlates of Mitochondrial Physiology and Disease<br>2. MELAS-encoded diseases<br>3. MELAS-(classic presentation)<br>4. MERRF<br>5. Pearson Syndrome<br>6. Kearn-Sayre Syndrome<br>7. Chronic Progressive External Ophthalmoplegia<br>8. Leber Hereditary Optic Neuropathy<br>9. Leigh Syndrome<br>10. NARP<br>11. Maternal Inherited Diabetes<br>12. Sporadic Myopathy<br>13. Pyruvate Dehydrogenase Complex Deficiencies<br>14. Friedreich Ataxia<br>15. Leigh Syndrome<br>16. Reversible Myopathy<br>17. Childhood Alpers-Huttenlocher Syndrome<br>18. Juvenile Alpers-Huttenlocher Syndrome<br>19. Autosomal dominant Progressive External Ophthalmoplegia<br>20. c10orf2 (Twinkle)<br>21. MPV17/Deoxyguanosine Kinase<br>22. RRM2B<br>23. Mitochondrial Nasogastric Intestinal Encephalopathy<br>24. Thymidine Kinase<br>25. OPA1<br>26. MFN2<br>27. Aminoacyl-tRNA synthetase (CNS)<br>28. Aminoacyl-tRNA synthetase (Non-CNS)<br>29. MTO1<br>30. Complex I<br>31. Complex II<br>32. Complex III (GRACILE)<br>33. Complex IV<br>34. Complex V<br>35. Coenzyme Q10 (Primary Brain)<br>36. Coenzyme Q10 (Primary Renal)</p>