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|a 0128011491
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|a 9780128011492
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|z 0128008776
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|z 9780128008775
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|a (OCoLC)930489359
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|a RB147.5
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|a 616/.042
|2 23
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| 245 |
0 |
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|a Mitochondrial case studies :
|b underlying mechanisms and diagnosis /
|c 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.
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| 264 |
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1 |
|a Amsterdam :
|b Elsevier,
|c [2016]
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| 264 |
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|c �2016
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| 300 |
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|a 1 online resource :
|b illustrations
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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0 |
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|a Print version record.
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| 504 |
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|a Includes bibliographical references and index.
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0 |
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|a 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.
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| 505 |
8 |
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|a 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.
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| 505 |
8 |
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|a CLINICAL 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.
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| 505 |
8 |
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|a PATHOPHYSIOLOGY -- 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.
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| 505 |
8 |
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|a CLINICAL 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.
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| 505 |
8 |
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|a 12 -- Pyruvate Dehydrogenase Complex Deficiency.
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| 650 |
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0 |
|a Mitochondrial pathology
|v Case studies.
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| 650 |
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0 |
|a Mitochondrial pathology
|x Diagnosis
|v Case studies.
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| 650 |
|
2 |
|a Mitochondrial Diseases
|0 (DNLM)D028361
|
| 650 |
|
6 |
|a Maladies mitochondriales
|0 (CaQQLa)201-0215121
|v �Etudes de cas.
|0 (CaQQLa)201-0376950
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| 650 |
|
7 |
|a HEALTH & FITNESS
|x Diseases
|x General.
|2 bisacsh
|
| 650 |
|
7 |
|a MEDICAL
|x Clinical Medicine.
|2 bisacsh
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| 650 |
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7 |
|a MEDICAL
|x Diseases.
|2 bisacsh
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| 650 |
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7 |
|a MEDICAL
|x Evidence-Based Medicine.
|2 bisacsh
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| 650 |
|
7 |
|a MEDICAL
|x Internal Medicine.
|2 bisacsh
|
| 650 |
|
7 |
|a Mitochondrial pathology
|2 fast
|0 (OCoLC)fst01024022
|
| 655 |
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2 |
|a Case Reports
|0 (DNLM)D002363
|
| 655 |
|
7 |
|a Case studies
|2 fast
|0 (OCoLC)fst01423765
|
| 655 |
|
7 |
|a Case studies.
|2 lcgft
|
| 655 |
|
7 |
|a �Etudes de cas.
|2 rvmgf
|0 (CaQQLa)RVMGF-000001726
|
| 700 |
1 |
|
|a Saneto, Russell P.,
|e editor.
|
| 700 |
1 |
|
|a Parikh, Sumit,
|e editor.
|
| 700 |
1 |
|
|a Cohen, Bruce H.,
|e editor.
|
| 776 |
0 |
8 |
|i Erscheint auch als:
|n Druck-Ausgabe
|a Saneto, Russell. Mitochondrial Case Studies .
|t Underlying Mechanisms and Diagnosis
|
| 856 |
4 |
0 |
|u https://sciencedirect.uam.elogim.com/science/book/9780128008775
|z Texto completo
|
