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We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.  相似文献   
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Scheffler  H.  Witkowski  S.  Becke-Goehring  M.  Bock  R.  Schuster  P.  Habermehl  G.  Jaenicke  L.  Schröder  F. A.  Tritsch  M. F.  Creutzfeldt  O.  Ziegler  H.  Hölldobler  B. 《Die Naturwissenschaften》1984,71(10):540-543
The Science of Nature -  相似文献   
276.
Necrotic brown lesions developing on leaves and fruits of lemon, and other plants, near fossil-fuel-burning power plants emitting vanadium-rich ash, were reproduced experimentally by inoculating leaves with this type of ash, which is strongly acidic. Comparable lesions were formed when drops of vanadium oxide, dissolved in NaOH, were put on leaves and fruits. Neutralizing, or adding excess H2SO4 (to pH 3), did not alter lesion formation. The histology of these lesions was similar to that of lesions attributed to vanadium-rich ash.  相似文献   
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We report relatively high citrulline concentration in amniotic fluid of a citrullinemic fetus suggesting that prenatal detection of this condition could be done on this basis in conjunction with a direct or an indirect determination of argininosuccinate synthetase activity in amniotic fluid cells.  相似文献   
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The climate impact from the useof peat for energy production in Sweden hasbeen evaluated in terms of contribution toatmospheric radiative forcing. This wasdone by attempting to answer the question`What will be the climate impact if onewould use 1 m2 of mire for peatextraction during 20 years?'. Two differentmethods of after-treatment were studied:afforestation and restoration of wetland.The climate impact from a peatland –wetland scenario and a peatland –forestation – bioenergy scenario wascompared to the climate impact from coal,natural gas and forest residues.Sensitivity analyses were performed toevaluate which parameters that areimportant to take into consideration inorder to minimize the climate impact frompeat utilisation. In a `multiple generationscenario' we investigate the climate impactif 1 Mega Joule (MJ) of energy is produced every yearfor 300 years from peat compared to otherenergy sources.The main conclusions from the study are:?The accumulated radiative forcing from the peatland – forestation – bioenergy scenario over a long time perspective (300 years) is estimated to be 1.35 mJ/m2/m2 extraction area assuming a medium-high forest growth rate and medium original methane emissions from the virgin mire. This is below the corresponding values for coal 3.13 mJ/ m2/ m2 extraction area and natural gas, 1.71 mJ/ m2/ m2 extraction area, but higher than the value for forest residues, 0.42 mJ/ m2/ m2 extraction area. A `best-best-case' scenario, i.e. with high forest growth rate combined with high `avoided' methane (CH4) emissions, will generate accumulated radiative forcing comparable to using forest residues for energy production. A `worst-worst-case' scenario, with low growth rate and low `avoided' CH4 emissions, will generate radiative forcing somewhere in between natural gas and coal.?The accumulated radiative forcing from the peatland – wetland scenario over a 300-year perspective is estimated to be 0.73 –1.80 mJ/ m2/ m2 extraction area depending on the assumed carbon (C) uptake rates for the wetland and assuming a medium-high methane emissions from a restored wetland. The corresponding values for coal is 1.88 mJ/ m2/ m2 extraction area, for natural gas 1.06 mJ/ m2/ m2 extraction area and for forest residues 0.10 mJ/ m2/ m2 extraction area. A `best-best-case' scenario (i.e. with high carbon dioxide CO2-uptake combined with high `avoided' CH4 emissions and low methane emissions from the restored wetland) will generate accumulated radiative forcing that decreases and reaches zero after 240 years. A `worst-worst-case' (i.e. with low CO2-uptake combined with low `avoided' CH4 emissions and high methane emissions from the restored wetland) will generate radiative forcing higher than coal over the entire time period.?The accumulated radiative forcing in the `multiple generations' – scenarios over a 300-year perspective producing 1 MJ/year is estimated to be 0.089 mJ/ m2 for the scenario `Peat forestation – bioenergy', 0.097 mJ/ m2 for the scenario `Peat wetland with high CO2-uptake' and 0.140 mJ/ m2 for the scenario `Peat wetland with low CO2-uptake'. Corresponding values for coal is 0.160 mJ/ m2, for natural gas 0.083 mJ/ m2 and for forest residues 0.015 mJ/ m2. Using a longer time perspective than 300 years will result in lower accumulated radiative forcing from the scenario `Peat wetland with high CO2-uptake'. This is due to the negative instantaneous forcing that occurs after 200 years for each added generation.?It is important to consider CH4 emissions from the virgin mire when choosing mires for utilization. Low original methane emissions give significantly higher total climate impact than high original emissions do.?Afforestation on areas previously used for peat extraction should be performed in a way that gives a high forest growth rate, both for the extraction area and the surrounding area. A high forest growth rate gives lower climate impact than a low forest growth rate.?There are great uncertainties related to the data used for emissions and uptake of greenhouse gases in restored wetlands. The mechanisms affecting these emissions and uptake should be studied further.  相似文献   
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