附註:Includes bibliographical references and index.
The human OXPHOS system / Immo E. Scheffler -- Molecular biology of the OXPHOS system / Richard C. Scarpulla -- Clinical diagnosis of oxidative phosphorylation disorders / Robert McFarland [and others] -- Contribution of histopathological examination to the diagnosis of OXPHOS disorders / Martin Lammens and Henk ter Laak -- Biochemical diagnosis of OXPHOS disorders / J.M. Frans Trijbels [and others] -- Mitochondrial DNA and OXPHOS disorders / Massimo Zeviani and Valerio Carelli -- Nuclear DNA and oxidative phosphorylation / Lambert P. van den Heuvel and Jan A.M. Smeitink -- Cell biological consequences of OXPHOS disorders / Werner J.H. Koopman [and others] -- Animal models of OXPHOS disorders / Nicole Hance and Nils-Göran Larsson -- Therapeutic options in OXPHOS disorders / Rob C.A. Sengers [and others] -- Prenatal diagnostics in oxidative phosphorylation disorders / Antoon J.M. Janssen [and others] -- Future developments in the laboratory diagnosis of OXPHOS disorders / David R. Thorburn.
摘要: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.
