Coverart for item
The Resource Diagnosis and management of mitochondrial disorders, editors, Michelangelo Mancuso and Thomas Klopstock

Diagnosis and management of mitochondrial disorders, editors, Michelangelo Mancuso and Thomas Klopstock

Label
Diagnosis and management of mitochondrial disorders
Title
Diagnosis and management of mitochondrial disorders
Statement of responsibility
editors, Michelangelo Mancuso and Thomas Klopstock
Contributor
Subject
Language
eng
Summary
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
Dewey number
616.07
Index
no index present
Literary form
non fiction
Nature of contents
dictionaries
http://library.link/vocab/relatedWorkOrContributorName
  • Mancuso, Michelangelo,
  • Klopstock, Thomas,
http://library.link/vocab/subjectName
  • Mitochondrial pathology
  • Mitochondrial DNA
Label
Diagnosis and management of mitochondrial disorders, editors, Michelangelo Mancuso and Thomas Klopstock
Instantiates
Publication
Antecedent source
unknown
Color
multicolored
Contents
  • Intro; 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
  • The 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
  • SDH-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
  • MtDNA 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
  • What 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
Control code
on1100071085
Dimensions
unknown
Extent
1 online resource
File format
unknown
Form of item
online
Isbn
9783030055172
Level of compression
unknown
Note
SpringerLink
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
(OCoLC)1100071085
Label
Diagnosis and management of mitochondrial disorders, editors, Michelangelo Mancuso and Thomas Klopstock
Publication
Antecedent source
unknown
Color
multicolored
Contents
  • Intro; 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
  • The 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
  • SDH-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
  • MtDNA 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
  • What 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
Control code
on1100071085
Dimensions
unknown
Extent
1 online resource
File format
unknown
Form of item
online
Isbn
9783030055172
Level of compression
unknown
Note
SpringerLink
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
(OCoLC)1100071085

Library Locations

    • InternetBorrow it
      Albany, Auckland, 0632, NZ
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