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Mitochondrial Case Studies
Underlying Mechanisms and Diagnosis
1st Edition - November 24, 2015
Editors: Russell Saneto, Sumit Parikh, Bruce H Cohen
Language: English
Hardback ISBN:9780128008775
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eBook ISBN:9780128011492
9 7 8 - 0 - 1 2 - 8 0 1 1 4 9 - 2
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diver…Read more
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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
geneticists, neurologists, residents, fellows, and physicians in internal medicine and pediatrics; researchers in genetics, cell biology, and neurology.
Contributors
Preface
Chapter 1. Introduction: Mitochondrial Medicine
Introduction
Overview of Mitochondrial Structure and Function
A Brief History of Clinical Mitochondrial Medicine and Clinical Features
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
No. of pages: 338
Language: English
Edition: 1
Published: November 24, 2015
Imprint: Academic Press
Hardback ISBN: 9780128008775
eBook ISBN: 9780128011492
RS
Russell Saneto
Russell P. Saneto is a pediatric neurologist who specializes in diagnosis and treatment of mitochondrial disorders and intractable epilepsy. His PhD was in human biochemical genetics was obtained at the University of Texas Medical Branch. His medical degree was obtained from the Des Moines University of Osteopathic Medicine and he did his pediatric, pediatric neurology, and pediatric neurophysiology fellowship at the Cleveland Clinic in Ohio. He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children’s Hospital over the past 15 years. He is currently the Head of the Mitochondrial Medicine group at Seattle Children’s and is a professor in the department of Neurology and adjunct Professor in Pediatrics. He has appointments in both Pediatrics and Neurology at Seattle Children’s and University of Washington.
Affiliations and expertise
Department Neurology/Division Pediatric Neurology, Seattle Children’s and University of Washington, Seattle, WA USA
SP
Sumit Parikh
Sumit Parikh, MD is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He serves as the current chair of the United Mitochondrial Disease Foundation Scientific & Medical Advisor Board. He is the immediate Past-President of the Mitochondrial Medicine Society.
Affiliations and expertise
Associate Professor of Neurology and Pediatrics, Cleveland Clinic Lerner College of Medicine & Case Western Reserve University, Cleveland, OH, USA; Director of the Neurogenetics, Metabolism and Mitochondrial Disease Center, Cleveland Clinic, Cleveland, OH, USA
BC
Bruce H Cohen
Affiliations and expertise
Professor of Pediatrics, Northeast Ohio Medical University, Rootstown, OH, USA; Director of The NeuroDevelopmental Science Center and Divison of Neurology, and Department of Pediatrics, Children's Hospital and Medical Center of Akron, Akron, OH, USA