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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…mehr

Produktbeschreibung
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.
Autorenporträt
Jan A.M. Smeitink, University Medical Center Nijmegen, The Netherlands
Rezensionen
From the reviews of the first edition:

"There has been a great advance in the past 60 years in the understanding of mitochondrial genetics ... . The current volume opens with two chapters on the basic biochemistry and molecular biology of the human OXPHOS, which are followed by seven chapters on the clinical aspects of oxidative phosphorylation disorders including animal models. ... A very interesting read for all concerned with this subject from the researcher to the clinician." (P. B. Gahan, Cell Biochemistry and Function, Vol. 24 (2), 2006)