03492nam 22005415 450 991033748370332120200705153714.03-030-05517-510.1007/978-3-030-05517-2(CKB)4100000008103772(MiAaPQ)EBC5771198(DE-He213)978-3-030-05517-2(PPN)236524909(EXLCZ)99410000000810377220190503d2019 u| 0engurcnu||||||||txtrdacontentcrdamediacrrdacarrierDiagnosis and Management of Mitochondrial Disorders /edited by Michelangelo Mancuso, Thomas Klopstock1st ed. 2019.Cham :Springer International Publishing :Imprint: Springer,2019.1 online resource (382 pages)3-030-05516-7 Includes bibliographical references.Mitochondrial 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.This 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.NeurologyHuman geneticsInternal medicineNeurologyhttps://scigraph.springernature.com/ontologies/product-market-codes/H36001Human Geneticshttps://scigraph.springernature.com/ontologies/product-market-codes/B12008Internal Medicinehttps://scigraph.springernature.com/ontologies/product-market-codes/H33002Neurology.Human genetics.Internal medicine.Neurology.Human Genetics.Internal Medicine.572.869616.07Mancuso Michelangeloedthttp://id.loc.gov/vocabulary/relators/edtKlopstock Thomasedthttp://id.loc.gov/vocabulary/relators/edtBOOK9910337483703321Diagnosis and Management of Mitochondrial Disorders1737513UNINA