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.
Mục lục
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.
Ngôn ngữ Anh ● định dạng PDF ● Trang 205 ● ISBN 9780387269924 ● Kích thước tập tin 15.6 MB ● Biên tập viên Jan A.M. Smeitink ● Nhà xuất bản Springer US ● Thành phố NY ● Quốc gia US ● Được phát hành 2007 ● Có thể tải xuống 24 tháng ● Tiền tệ EUR ● TÔI 2144296 ● Sao chép bảo vệ DRM xã hội