000890207 000__ 05214cam\a2200517Ii\4500
000890207 001__ 890207
000890207 005__ 20230306145915.0
000890207 006__ m\\\\\o\\d\\\\\\\\
000890207 007__ cr\cn\nnnunnun
000890207 008__ 190506s2019\\\\sz\\\\\\o\\\\\000\0\eng\d
000890207 019__ $$a1103811162$$a1105183015
000890207 020__ $$a9783030055172$$q(electronic book)
000890207 020__ $$a3030055175$$q(electronic book)
000890207 020__ $$z9783030055165
000890207 0247_ $$a10.1007/978-3-030-05517-2$$2doi
000890207 0247_ $$a10.1007/978-3-030-05
000890207 035__ $$aSP(OCoLC)on1100071085
000890207 035__ $$aSP(OCoLC)1100071085$$z(OCoLC)1103811162$$z(OCoLC)1105183015
000890207 040__ $$aN$T$$beng$$erda$$epn$$cN$T$$dN$T$$dEBLCP$$dGW5XE$$dUKMGB$$dUPM$$dOCLCF$$dLQU
000890207 049__ $$aISEA
000890207 050_4 $$aRB147.5
000890207 08204 $$a616.07$$223
000890207 24500 $$aDiagnosis and management of mitochondrial disorders /$$ceditors, Michelangelo Mancuso and Thomas Klopstock.
000890207 264_1 $$aCham :$$bSpringer,$$c2019.
000890207 300__ $$a1 online resource
000890207 336__ $$atext$$btxt$$2rdacontent
000890207 337__ $$acomputer$$bc$$2rdamedia
000890207 338__ $$aonline resource$$bcr$$2rdacarrier
000890207 347__ $$atext file$$bPDF$$2rda
000890207 5050_ $$aIntro; Preface; Mitochondrial Medicine: 30 Years Old, Much to Learn; Contents; Mitochondrial Medicine: A Historical Point of View; Introduction; 1950-1980; Leigh Syndrome; Chronic Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome; Luft Disease; Biochemical Classification of Mitochondrial Disease; 1980-1987; The Mapping of Human Mitochondrial DNA; 1989-2012; Mitochondrial Encephalomyopathies with CoQ10 Deficiency; Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS); 1988-1995; Mutations in the Mitochondrial DNA
000890207 5058_ $$aThe mtDNA Bottleneck and Challenge in Genetic Counselling1996-2010; Maintenance Defects of Mitochondrial DNA; Clinical Rating Scales for Longitudinal Study; Establishment of the Prevalence of Mitochondrial Disease; 2011-2017; Revolution of Genetic Diagnosis with the Next-Generation Sequencing; Natural History and Cohort Studies; Treatment and Emerging Therapies for Mitochondrial Disease; Reproductive Options and Mitochondrial Donation; Conclusions; References; Mitochondria: Muscle Morphology; Introduction; Light Microscopy Studies; Succinate Dehydrogenase; Cytochrome c Oxidase
000890207 5058_ $$aSDH-COX Double StainMyopathology of Pediatric Mitochondrial Disorders; Immunocytochemistry; Immunolocalization of Nuclear DNA- and Mitochondrial DNA-Encoded Subunits of Respiratory Chain; Immunolocalization of Mitochondrial DNA; Electron Microscopy; Paracrystalline (Parking Lot) Inclusions (PCIs); Cristae Modifications; Mitochondria Hyperbranching; Fission and Fusion; Mitochondrial Morphology as a Tool for Basic Research and Treatment Implications; References; Mitochondrial Disease Genetics; Introduction; Genetic Etiologies of Primary Mitochondrial Disease
000890207 5058_ $$aMtDNA Causes of Mitochondrial DiseaseClasses of mtDNA Genes; Nuclear DNA Causes of Mitochondrial Disease; Inheritance of Nuclear Gene Causes of Mitochondrial Disease; Classes of nDNA Genes that Cause Primary Mitochondrial Disease; Identifying and Confirming Molecular Causes of Primary Mitochondrial Disease; Mitochondrial Genome Variant Curation and Deposition; Genomic Testing Technical Specifications; Whole Exome Sequencing (WES); Whole Genome Sequencing (WGS); RNA Sequencing (RNA-seq); Conclusion; References; Epidemiology of Mitochondrial Disease; Introduction
000890207 5058_ $$aWhat Do We Include as 'Primary Mitochondrial Disease'?What Obstacles Are There to the Epidemiology Study of Mitochondrial Disease?; Epidemiology Studies; Population-Based Studies of mtDNA Mutations; Prevalence of Mitochondrial Disease Within Defined Geographic Populations; Prevalence of mtDNA Mutations Within Defined Disease Cohorts; Diabetes; Deafness; Optic Neuropathy; Conclusion; References; Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS); Introduction; Clinical Diagnosis; Clinical Symptoms; Review of Symptoms by Organ System
000890207 506__ $$aAccess limited to authorized users.
000890207 520__ $$aThis book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world's foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.
000890207 588__ $$aOnline resource; title from PDF title page (viewed May 7, 2019)
000890207 650_0 $$aMitochondrial pathology.
000890207 650_0 $$aMitochondrial DNA$$xAbnormalities.
000890207 7001_ $$aMancuso, Michelangelo,$$eeditor.
000890207 7001_ $$aKlopstock, Thomas,$$eeditor.
000890207 77608 $$iPrint version: $$z9783030055165
000890207 852__ $$bebk
000890207 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-030-05517-2$$zOnline Access$$91397441.1
000890207 909CO $$ooai:library.usi.edu:890207$$pGLOBAL_SET
000890207 980__ $$aEBOOK
000890207 980__ $$aBIB
000890207 982__ $$aEbook
000890207 983__ $$aOnline
000890207 994__ $$a92$$bISE