LEADER 03492nam 22005415 450 001 9910337483703321 005 20200705153714.0 010 $a3-030-05517-5 024 7 $a10.1007/978-3-030-05517-2 035 $a(CKB)4100000008103772 035 $a(MiAaPQ)EBC5771198 035 $a(DE-He213)978-3-030-05517-2 035 $a(PPN)236524909 035 $a(EXLCZ)994100000008103772 100 $a20190503d2019 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aDiagnosis and Management of Mitochondrial Disorders /$fedited by Michelangelo Mancuso, Thomas Klopstock 205 $a1st ed. 2019. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2019. 215 $a1 online resource (382 pages) 311 $a3-030-05516-7 320 $aIncludes bibliographical references. 327 $aMitochondrial Medicine: an Historical Point of View,- Mitochondrial Biology and Function -- Mitochondrial Genetics -- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome) -- Myoclonic Epilepsy with Ragged Red Fibers (MERRF Syndrome) -- Leber Hereditary Optic Neuropathy (LHON) -- Progressive External Ophthalmoplegia (PEO) -- Leigh Syndrome -- Mitochondrial Depletion Syndromes -- Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) -- Mitochondrial Neurodegenerative Disorders I: Dementia and Parkinsonisms -- Mitochondrial Neurodegenerative Disorders II: Ataxia & Dystonia, Leukidystrophies -- Mitochondria & Heart -- Mitochondria & Liver -- Mitochondria & Respiratory Involvement -- Mitochondrial Endocrinology -- Diagnostic Approach to Mitochondrial Disease -- Mitochondrial Replacement Approaches -- Exercise/Training -- Mitochondrial Symptomatic Treatments -- Experimental Therapies. 330 $aThis book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world?s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists. 606 $aNeurology 606 $aHuman genetics 606 $aInternal medicine 606 $aNeurology$3https://scigraph.springernature.com/ontologies/product-market-codes/H36001 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 606 $aInternal Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/H33002 615 0$aNeurology. 615 0$aHuman genetics. 615 0$aInternal medicine. 615 14$aNeurology. 615 24$aHuman Genetics. 615 24$aInternal Medicine. 676 $a572.869 676 $a616.07 702 $aMancuso$b Michelangelo$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aKlopstock$b Thomas$4edt$4http://id.loc.gov/vocabulary/relators/edt 906 $aBOOK 912 $a9910337483703321 996 $aDiagnosis and Management of Mitochondrial Disorders$91737513 997 $aUNINA