نتایج جستجو برای: ethylmalonic aciduria
تعداد نتایج: 1386 فیلتر نتایج به سال:
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarniti...
Ibipinabant (IBI), a potent cannabinoid-1 receptor (CB1R) antagonist, previously in development for the treatment of obesity, causes skeletal and cardiac myopathy in beagle dogs. This toxicity was characterized by increases in muscle-derived enzyme activity in serum and microscopic striated muscle degeneration and accumulation of lipid droplets in myofibers. Additional changes in serum chemistr...
Mutations in human (Homo sapiens) ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 (ETHE1) result in the complex metabolic disease ethylmalonic encephalopathy, which is characterized in part by brain lesions, lactic acidemia, excretion of ethylmalonic acid, and ultimately death. ETHE1-like genes are found in a wide range of organisms; however, the biochemical and physiological role(s) of ETHE1 have not bee...
[l-‘3C]Butyric acid and four different racemic 2-methylbutyric acids labeled with 13C or ‘H at various positions were synthesized to study the mechanism of 2ethylmalonic acid formation as well as several other steps of the R pathway of isoleucine metabolism in rats in uiuo. These are [2-‘HI-, [methyZ-‘3C]-, [methyl-‘HJ-, and 2-methyl[l-‘3C]butyric acid. These labeled precursors were administere...
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