TY  - BOOK
AU  - Smeitink,Jan A.M.
AU  - Sengers,Rob C.A.
AU  - Trijbels,J.M.Frans
ED  - SpringerLink (Online service)
TI  - Oxidative Phosphorylation in Health and Disease
T2  - Medical Intelligence Unit
SN  - 9780387269924
U1  - 616.39 23
PY  - 2005///
CY  - Boston, MA
PB  - Springer US
KW  - MEDICINE
KW  - HUMAN PHYSIOLOGY
KW  - METABOLIC DISEASES
KW  - CYTOLOGY
KW  - MICROBIOLOGY
KW  - MICROBIAL GENETICS
KW  - MEDICINE & PUBLIC HEALTH
KW  - MICROBIAL GENETICS AND GENOMICS
KW  - MOLECULAR MEDICINE
KW  - CELL BIOLOGY
KW  - EUKARYOTIC MICROBIOLOGY
N1  - 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
N2  - 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
UR  - http://dx.doi.org/10.1007/b138432
ER  -