Mitochondrial case studies underlying mechanisms and diagnosis 1st Edition by Russell Saneto, Sumit Parikh, Bruce Cohen 0128011491 9780128011492
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Product details:
ISBN 10: 0128011491
ISBN 13: 9780128011492
Author: Russell P. Saneto, Sumit Parikh, Bruce H Cohen
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.
- 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
Table of contents:
Chapter 1. Introduction: Mitochondrial Medicine
Part I. Mitochondrial DNA Encoded Diseases
Chapter 2. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
Chapter 3. MERRF: Myoclonus Epilepsy and Ragged Red Fibers
Chapter 4. Pearson Syndrome
Chapter 5. Kearns–Sayre Syndrome
Chapter 6. Chronic Progressive External Ophthalmoplegia (CPEO)
Chapter 7. Leber Hereditary Optic Neuropathy
Chapter 8. Leigh Syndrome
Chapter 9. Neuropathy, Ataxia, and Retinitis Pigmentosa
Chapter 10. Maternally Inherited (Mitochondrial) Diabetes
Chapter 11. Sporadic Myopathy
Part II. Nuclear Encoded Diseases
Chapter 12. Pyruvate Dehydrogenase Complex Deficiency
Chapter 13. Friedreich Ataxia
Chapter 14. Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome
Chapter 15. Reversible Infantile Respiratory Chain Deficiency
Chapter 16. Childhood Alpers-Huttenlocher Syndrome
Chapter 17. Juvenile Alpers-Huttenlocher Syndrome
Chapter 18. Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes
Chapter 19. Infantile-Onset Spinocerebellar Ataxia (IOSCA)
Chapter 20. MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome
Chapter 21. Mitochondrial DNA Depletion Syndromes Presenting in Childhood
Chapter 22. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Chapter 23. TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
Chapter 24. Autosomal Dominant Optic Atrophy
Chapter 25. Childhood-Onset Peripheral Neuropathy with Cognitive Decline
Chapter 26. Brain-Specific Mitochondrial Aminoacyl-tRNA Synthetase Disorders: Mitochondrial Arginyl-Transfer RNA Synthetase Deficiency
Chapter 27. Mitochondrial Aminoacyl-tRNA Synthetase Disorders Not Generally Affecting Brain
Chapter 28. Defects in Post-Transcriptional Modification of Mitochondrial Transferase RNA: A Patient with Possible Mitochondrial-tRNA Translation Optimization Factor 1, MTO1 Dysfunction
Chapter 29. Complex I Deficiency
Chapter 30. Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1
Chapter 31. BCS1L Mutations as a Cause of Björnstad Syndrome–GRACILE Syndrome Complex III Deficiency
Chapter 32. Complex IV
Chapter 33. Complex V Disorders
Chapter 34. Primary Cerebellar CoQ10 Deficiency
Chapter 35. Multisystemic Infantile CoQ10 Deficiency with Renal Involvement
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Tags: Russell Saneto, Sumit Parikh, Bruce Cohen, Mitochondrial