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Cover image for book Oxidative Phosphorylation in Health and Disease

Oxidative Phosphorylation in Health and Disease

By:Jan A. M. Smeitink; Rob C. A. Sengers; J. M. Frans Trijbels
Publisher:Springer Nature
Print ISBN:9780306482328
eText ISBN:9780387269924
Edition:1
Copyright:2005
Format:Page Fidelity

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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.