نتایج جستجو برای: ethylmalonic encephalopathy
تعداد نتایج: 20072 فیلتر نتایج به سال:
The sulfur dioxygenase ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 (ETHE1) catalyzes the oxidation of persulfides in the mitochondrial matrix and is essential for early embryo development in Arabidopsis (Arabidopsis thaliana). We investigated the biochemical and physiological functions of ETHE1 in plant metabolism using recombinant Arabidopsis ETHE1 and three transfer DNA insertion lines with 50% to 9...
We have shown previously that a variant allele of the short-chain acyl-CoA dehydrogenase ( SCAD ) gene, 625G-->A, is present in homozygous form in 7% of control individuals and in 60% of 135 patients with elevated urinary excretion of ethylmalonic acid (EMA). We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a ne...
In this paper we present a model for the short (< 1 second) population of gamma-ray bursts. In this model heated neutron stars in a close binary system near its last stable orbit emit a large amount of neutrinos (∼ 10 ergs). A fraction of these neutrinos will annihilate to form an ee pair plasma wind which will, in turn, expand and recombine to photons which make the gamma-ray burst. We study n...
In this paper we combine model-based video synthesis with block-based motion-compensated prediction. Two frames are utilized for prediction where one frame is the previously decoded one and the other frame is provided by a model-based coder. The approach is integrated into an H.263-based video codec. Rate-distortion optimization is employed for the coding control. Hence, the coding ee-ciency do...
Supernova remnants have long been regarded as sources of the Galactic cosmic rays up to petaelectronvolts, but convincing evidence is still lacking. In this work we explore the common origin of the subtle features of the cosmic ray spectra, such as the knee of cosmic ray spectra and the excesses of electron/positron fluxes recently observed by ATIC, H.E.S.S., Fermi-LAT and PAMELA. Numerical cal...
To the Editor : Isobutyryl-CoA dehydrogenase (IBD) deficiency is a very rare autosomal recessive metabolic disorder that is related to valine catabolism. Inherited metabolic disorders (IMDs) with an increase in C4 acylcarnitine include IBD deficiency, shortchain acyl-CoA dehydrogenase (SCAD) deficiency, ethylmalonic encephalopathy, multiple acyl-CoA dehydrogenase deficiency and formiminoglutami...
organic academia are diverse group of disorders characterized by abnormal degredation of specific amino acid in the specific catabolism due to an enzymeactivity defect which mainly due to enzyme deficiency. the majority of the classic organic acid disorders are caused by abnormal catabolism of branched-chain amino acids like lysine. maple syrup urine disease (msud), propionic acidemia, methylma...
when a child presented with decreased level of consciousness in the emergency room, taking the right approach is one of the most important skills that every emergency physician should have. ideally, there should be a defined diagnostic and therapeutic algorithm in the emergency room for managing these children in order to minimize difficulties diagnostically and maximize time spent helping the ...
Ravi P. Pilla Department of Physics, Columbia University, New York, NY 10027, USA; [email protected] Abraham Loeb Astronomy Department, Harvard University 60 Garden Street, Cambridge, MA 02138, USA; [email protected] Cosmological γ-ray bursts originate from relativistic winds. Temporal fluctuations in the wind velocity can give rise to internal shocks which dissipate a significa...
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