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, Sumit Parikh, Bruce H. Cohen.

Edition Statements

Publication Date:©2016

Publication Statements

Publisher(s):Academic Press
Place of Publication:Amsterdam, [Netherlands]
Language:eng
Publication Date:©2016

Notes

Description based upon print version of record.

EFFECTS ON BRAIN PATHOLOGY PRE- AND POSTNATALLY

The Physical Object

Description:1 online resource (340 p.)

Edition Identifiers

ISBN:0128011491, 9780128011492, 9780128008775, 0128008776
oclc:on1162083260
LC Classification:RB147.5
Dewey Decimal:572.869

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 TestingOther 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 PEARLS; FURTHER READING; 5 -- Kearns-Sayre Syndrome; CASE PRESENTATION; DIFFERENTIAL DIAGNOSIS

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