000			03139nam a22005415i 4500
001			978-0-387-26992-4
003			DE-He213
005			20250710083937.0
007			cr nn 008mamaa
008			100301s2005 xxu| s |||| 0|eng d
020			_a9780387269924 _a99780387269924
024	7		_a10.1007/b138432 _2doi
082	0	4	_a616.39 _223
100	1		_aSmeitink, Jan A. M. _eauthor.
245	1	0	_aOxidative Phosphorylation in Health and Disease _h[recurso electrónico] / _cby Jan A. M. Smeitink, Rob C. A. Sengers, J. M. Frans Trijbels.
264		1	_aBoston, MA : _bSpringer US, _c2005.
300			_a220 p. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_arecurso en línea _bcr _2rdacarrier
347			_atext file _bPDF _2rda
490	1		_aMedical Intelligence Unit
505	0		_aThe 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.
520			_aMitochondrial 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.
650		0	_aMEDICINE.
650		0	_aHUMAN PHYSIOLOGY.
650		0	_aMETABOLIC DISEASES.
650		0	_aCYTOLOGY.
650		0	_aMICROBIOLOGY.
650		0	_aMICROBIAL GENETICS.
650	1	4	_aMEDICINE & PUBLIC HEALTH.
650	2	4	_aMETABOLIC DISEASES.
650	2	4	_aMICROBIAL GENETICS AND GENOMICS.
650	2	4	_aMOLECULAR MEDICINE.
650	2	4	_aCELL BIOLOGY.
650	2	4	_aHUMAN PHYSIOLOGY.
650	2	4	_aEUKARYOTIC MICROBIOLOGY.
700	1		_aSengers, Rob C. A. _eauthor.
700	1		_aTrijbels, J. M. Frans. _eauthor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9780306482328
830		0	_aMedical Intelligence Unit
856	4	0	_uhttp://dx.doi.org/10.1007/b138432 _zVer el texto completo en las instalaciones del CICY
912			_aZDB-2-SME
942			_2ddc _cER
999			_c56604 _d56604