Mitochondrial case studies: underlying mechanisms and diagnosis

by Cohen, Bruce H. Parikh, Sumit Saneto, Russell P.

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Title Statements

Full title :Mitochondrial case studies : underlying mechanisms and diagnosis / edited by Russell P. Saneto, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USA, Sumit Parikh, Cleveland Clinic Lerner College of Medicine & Case Western Reserve University, Cleveland, OH, USA ; Neurogenetics, Metabolism and Mitochondrial Disease Center, Cleveland Clinic, Cleveland, OH, USA, Bruce H. Cohen, Northeast Ohio Medical University, Rootstown, OH, USA ; the NeuroDevelopmental Science Center and Division of Neurology, Department of Pediatrics, Children's Hospital and Medical Center of Akron, Akron, OH, USA.

Edition Statements

Publication Date:©2016

Publication Statements

Publisher(s):Elsevier
Place of Publication:Amsterdam
Language:eng
Publication Date:©2016

The Physical Object

Description:1 online resource : : illustrations

Edition Identifiers

ISBN:0128011491, 9780128011492
oclc:ocn930489359
LC Classification:RB147.5
Dewey Decimal:616/.042

Front Cover -- Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis -- Copyright -- Contents -- Contributors -- Preface -- 1 -- Introduction: Mitochondrial Medicine -- INTRODUCTION -- OVERVIEW OF MITOCHONDRIAL STRUCTURE AND FUNCTION -- A BRIEF HISTORY OF CLINICAL MITOCHONDRIAL MEDICINE AND CLINICAL FEATURES -- REFERENCES -- FURTHER READING -- I -- Mitochondrial DNA Encoded Diseases -- 2 -- Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) -- CASE PRESENTATION -- INTRODUCTION -- PATHOPHYSIOLOGY -- DIAGNOSTIC APPROACH -- Metabolites.

Cerebrospinal Fluid -- Neuroimaging -- Muscle Biopsy -- Genetic Testing -- Other Investigations -- DIFFERENTIAL DIAGNOSIS -- TREATMENT -- CLINICAL PEARLS -- REFERENCES -- 3 -- MERRF: Myoclonus Epilepsy and Ragged Red Fibers -- CASE PRESENTATIONS -- Case 1 -- Case 2 -- DIFFERENTIAL DIAGNOSIS -- Case 1 -- Case 2 -- Diagnostic Approach -- TREATMENT STRATEGIES -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY -- CLINICAL PEARLS -- FURTHER READING -- 4 -- Pearson Syndrome -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- TREATMENT STRATEGIES -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY.

CLINICAL PE…

Subjects

Case Reports Case studies Études de cas HEALTH & FITNESS -- Diseases Maladies mitochondriales -- Études de c… MEDICAL -- Clinical Medicine MEDICAL -- Diseases MEDICAL -- Evidence-Based Medicine MEDICAL -- Internal Medicine Mitochondrial Diseases Mitochondrial pathology Mitochondrial pathology -- Case studies Mitochondrial pathology -- Case studies…