000			05874cam a2200625Ii 4500
001			ocn930489359
003			OCoLC
005			20190328114813.0
006			m o d
007			cr |n|||||||||
008			151127s2015 ne a ob 001 0 eng d
040			_aIDEBK _beng _erda _epn _cIDEBK _dN$T _dYDXCP _dN$T _dOPELS _dEBLCP _dWURST _dCDX _dOCLCQ _dDEBBG _dOCLCQ _dU3W _dD6H _dOCLCF _dAU@
020			_a0128011491 _q(electronic bk.)
020			_a9780128011492 _q(electronic bk.)
020			_z0128008776
020			_z9780128008775
035			_a(OCoLC)930489359
050		4	_aRB147.5
072		7	_aHEA _x039000 _2bisacsh
072		7	_aMED _x014000 _2bisacsh
072		7	_aMED _x022000 _2bisacsh
072		7	_aMED _x112000 _2bisacsh
072		7	_aMED _x045000 _2bisacsh
082	0	4	_a616/.042 _223
245	0	0	_aMitochondrial case studies : underlying mechanisms and diagnosis / _h[electronic resource] _cedited 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.
264		1	_aAmsterdam : _bElsevier, _c2016.
264		4	_c�2016
300			_a1 online resource : _billustrations
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
588	0		_aPrint version record.
504			_aIncludes bibliographical references and index.
505	0		_aFront 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.
505	8		_aCerebrospinal 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.
505	8		_aCLINICAL PEARLS -- FURTHER READING -- 5 -- Kearns-Sayre Syndrome -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH AND PATHOPHYSIOLOGY -- TREATMENT -- LONG-TERM OUTCOME -- CLINICAL PEARLS -- FURTHER READING -- 6 -- Chronic Progressive External Ophthalmoplegia (CPEO) -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- TREATMENT STRATEGY -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY -- CLINICAL PEARLS -- FURTHER READING -- 7 -- Leber Hereditary Optic Neuropathy -- CASE PRESENTATION -- Clinical Case -- Discussion -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH.
505	8		_aPATHOPHYSIOLOGY -- Secondary mtDNA Factors -- Nuclear Susceptibility Genes -- Hormonal Differences -- Environmental Triggers -- CASE MANAGEMENT -- Supportive Measures -- Preventative Measures -- Mitochondrial Cocktails -- Neuroprotective Agents -- Gene Therapy -- Unproven Treatments -- CLINICAL PEARLS -- FURTHER READING -- 8 -- Leigh Syndrome -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH AND PATHOPHYSIOLOGY -- TREATMENT -- CLINICAL PEARLS -- REFERENCES -- 9 -- Neuropathy, Ataxia, and Retinitis Pigmentosa -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS AND DIAGNOSTIC APPROACH.
505	8		_aCLINICAL PRESENTATION -- PATHOPHYSIOLOGY -- TREATMENT -- CLINICAL PEARLS -- REFERENCES -- FURTHER READING -- 10 -- Maternally Inherited (Mitochondrial) Diabetes -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- TREATMENT STRATEGY -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY/NEUROBIOLOGY OF DISEASE -- CLINICAL PEARLS -- REFERENCES -- FURTHER READING -- 11 -- Sporadic Myopathy -- CASE PRESENTATIONS -- Case 1 [1] -- Case 2 [2] -- Case 3 [4] -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- PATHOPHYSIOLOGY -- CLINICAL PEARLS -- REFERENCES -- II -- Nuclear Encoded Diseases.
505	8		_a12 -- Pyruvate Dehydrogenase Complex Deficiency.
650		0	_aMitochondrial pathology _vCase studies.
650		0	_aMitochondrial pathology _xDiagnosis _vCase studies.
650		7	_aHEALTH & FITNESS _xDiseases _xGeneral. _2bisacsh
650		7	_aMEDICAL _xClinical Medicine. _2bisacsh
650		7	_aMEDICAL _xDiseases. _2bisacsh
650		7	_aMEDICAL _xEvidence-Based Medicine. _2bisacsh
650		7	_aMEDICAL _xInternal Medicine. _2bisacsh
650		7	_aMitochondrial pathology. _2fast _0(OCoLC)fst01024022
655		4	_aElectronic books.
655		7	_aCase studies. _2fast _0(OCoLC)fst01423765
700	1		_aSaneto, Russell P., _eeditor.
700	1		_aParikh, Sumit, _eeditor.
700	1		_aCohen, Bruce H., _eeditor.
776	0	8	_iErscheint auch als: _nDruck-Ausgabe _aSaneto, Russell. Mitochondrial Case Studies . _tUnderlying Mechanisms and Diagnosis
856	4	0	_3ScienceDirect _uhttp://www.sciencedirect.com/science/book/9780128008775
999			_c247229 _d247229