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J. Mühling M. G. Dehne M. Fuchs A. Sablotzki S. Weiss J. Spatz G. Hempelmann 《Amino acids》2001,21(3):303-318
Summary. Currently we know not more than 50 patients who show an interesting combination of increased plasma ornithine concentrations,
postprandial hyperammonemia, and homocitrullinuria (HHH-syndrome). Since exact knowledge of this severe, although rare syndrome
is important for any perioperative or intensive medical treatment concerning therapy and progression of the disease, we report
a comprehensive study on a 32-year old woman with this rare multifaceted disorder who had to undergo general anaesthesia.
For the first time amino acid status in plasma, urine, cerebrospinal fluid and especially polymorphonuclear leucocytes, which
in the investigation showed to be valuable tool for evaluating amino acid metabolism in nucleated cells in HHH-syndrome, and
further important pathophysiologic indicators of cellular and metabolic function have been conscientiously investigated and
compared. The pathophysiological repercussions of our results as well as the recommendations for conscientious therapeutical
management are discussed.
Received September 9, 1999 Accepted July 1, 2000 相似文献
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Jonckheere AI Huigsloot M Lammens M Jansen J van den Heuvel LP Spiekerkoetter U von Kleist-Retzow JC Forkink M Koopman WJ Szklarczyk R Huynen MA Fransen JA Smeitink JA Rodenburg RJ 《Mitochondrion》2011,11(6):954-963
We report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion, which could be completely restored by complementation of the TMEM70 genetic defect. Comparative genomics analysis predicted the topology of TMEM70 in the inner mitochondrial membrane, which could be confirmed by immunogold labeling experiments, and showed that the TMEM70 gene is not restricted to higher multi-cellular eukaryotes. This study demonstrates that the role of complex V in mitochondrial cristae morphology applies to human mitochondrial disease pathology. 相似文献
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