Oxidative Phosphorylation in Health and Disease
by
 
Smeitink, Jan A. M. author.

Title
Oxidative Phosphorylation in Health and Disease

Author
Smeitink, Jan A. M. author.

ISBN
9780387269924

Personal Author
Smeitink, Jan A. M. author.

Physical Description
XIV, 205 p. online resource.

Series
Medical Intelligence Unit

Contents
The Human OXPHOS System -- Molecular Biology of the OXPHOS System -- Clinical Diagnosis of Oxidative Phosphorylation Disorders -- Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders -- Biochemical Diagnosis of OXPHOS Disorders -- Mitochondrial DNA and OXPHOS Disorders -- Nuclear DNA and Oxidative Phosphorylation -- Cell Biological Consequences of OXPHOS Disorders -- Animal Models of OXPHOS Disorders -- Therapeutic Options in OXPHOS Disorders -- Prenatal Diagnostics in Oxidative Phosphorylation Disorders -- Future Developments in the Laboratory Diagnosis of OXPHOS Disorders.

Abstract
Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.

Subject Term
Medicine.
 
Human physiology.
 
Metabolic diseases.
 
Cytology.
 
Microbiology.
 
Microbial genetics.
 
Medicine & Public Health.
 
Microbial Genetics and Genomics.
 
Molecular Medicine.
 
Cell Biology.
 
Eukaryotic Microbiology.

Added Author
Sengers, Rob C. A.
 
Trijbels, J. M. Frans.

Added Corporate Author
SpringerLink (Online service)

Electronic Access
http://dx.doi.org/10.1007/b138432


LibraryMaterial TypeItem BarcodeShelf NumberStatus
IYTE LibraryE-Book504564-1001RC627.5 -632Online Springer