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Mitochondrial Case Studies - 1st Edition

Subject ISBN Author Publisher Number of Pages Title Year Price
Cell Biology 9780128008775 Russell Saneto, Sumit Parikh, Bruce Cohen Elsevier 338 Mitochondrial Case Studies - 1st Edition 2016 $ 99.95
Author: Russell Saneto, Sumit Parikh, Bruce Cohen
Description: 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.
Table of Content: Contributors Preface Chapter 1. Introduction: Mitochondrial Medicine Introduction Overview of Mitochondrial Structure and Function A Brief History of Clinical Mitochondrial Medicine and Clinical Features Part I. Mitochondrial DNA Encoded Diseases Chapter 2. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Case Presentation Introduction Pathophysiology Diagnostic Approach Differential Diagnosis Treatment Clinical Pearls Chapter 3. MERRF: Myoclonus Epilepsy and Ragged Red Fibers Case Presentations Differential Diagnosis Treatment Strategies Long-Term Outcome Pathophysiology Clinical Pearls Chapter 4. Pearson Syndrome Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategies Long-Term Outcome Pathophysiology Clinical Pearls Chapter 5. Kearns–Sayre Syndrome Case Presentation Differential Diagnosis Diagnostic Approach and Pathophysiology Treatment Long-Term Outcome Clinical Pearls Chapter 6. Chronic Progressive External Ophthalmoplegia (CPEO) Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology Clinical Pearls Chapter 7. Leber Hereditary Optic Neuropathy Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Case Management Clinical Pearls Chapter 8. Leigh Syndrome Case Presentation Differential Diagnosis Diagnostic Approach and Pathophysiology Treatment Clinical Pearls Chapter 9. Neuropathy, Ataxia, and Retinitis Pigmentosa Case Presentation Differential Diagnosis and Diagnostic Approach Clinical Presentation Pathophysiology Treatment Clinical Pearls Chapter 10. Maternally Inherited (Mitochondrial) Diabetes Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Chapter 11. Sporadic Myopathy Case Presentations Differential Diagnosis Diagnostic Approach Pathophysiology Clinical Pearls Part II. Nuclear Encoded Diseases Chapter 12. Pyruvate Dehydrogenase Complex Deficiency Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Effects on Brain Pathology Pre- and Postnatally Clinical Pearls Chapter 13. Friedreich Ataxia Case Presentation Differential Diagnosis and Diagnostic Approach Clinical Presentation Pathophysiology Treatment Clinical Pearls Chapter 14. Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome Introduction Diagnostic Pipeline Case Studies Discussion Clinical Pearls Chapter 15. Reversible Infantile Respiratory Chain Deficiency Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Chapter 16. Childhood Alpers-Huttenlocher Syndrome Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Clinical Pearls Chapter 17. Juvenile Alpers-Huttenlocher Syndrome Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Treatment Clinical Pearls Chapter 18. Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Clinical Pearls Case Management Chapter 19. Infantile-Onset Spinocerebellar Ataxia (IOSCA) Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Chapter 20. MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Chapter 21. Mitochondrial DNA Depletion Syndromes Presenting in Childhood Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Clinical Pearls Chapter 22. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Chapter 23. TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Testing Strategy Pathophysiology Clinical Pearls Chapter 24. Autosomal Dominant Optic Atrophy Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Case Management Clinical Pearls Chapter 25. Childhood-Onset Peripheral Neuropathy with Cognitive Decline Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Clinical Pearls Chapter 26. Brain-Specific Mitochondrial Aminoacyl-tRNA Synthetase Disorders: Mitochondrial Arginyl-Transfer RNA Synthetase Deficiency Case Presentation Differential Diagnosis Diagnostic Approach Pathophysiology Clinical Pearls Chapter 27. Mitochondrial Aminoacyl-tRNA Synthetase Disorders Not Generally Affecting Brain Case Presentations Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology Clinical Pearls Chapter 28. Defects in Post-Transcriptional Modification of Mitochondrial Transferase RNA: A Patient with Possible Mitochondrial-tRNA Translation Optimization Factor 1, MTO1 Dysfunction Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Pathophysiology Clinical Pearls Chapter 29. Complex I Deficiency Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology Clinical Pearls Chapter 30. Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1 Case Presentation Differential Diagnosis Diagnostic Approach Long-Term Outcome and Treatment Strategy Pathophysiology of Disease Clinical Pearls Chapter 31. BCS1L Mutations as a Cause of Björnstad Syndrome–GRACILE Syndrome Complex III Deficiency Case Presentations Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology Clinical Pearls Chapter 32. Complex IV Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology Clinical Pearls Chapter 33. Complex V Disorders Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology Clinical Pearls Chapter 34. Primary Cerebellar CoQ10 Deficiency Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Chapter 35. Multisystemic Infantile CoQ10 Deficiency with Renal Involvement Case Presentation Differential Diagnosis Diagnostic Approach Treatment Strategy Long-Term Outcome Pathophysiology/Neurobiology of Disease Clinical Pearls Index

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