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R. B. H. Schutgens G. Schrakamp R. J. A. Wanders H. S. A. Heymans H. W. Moser A. E. Moser J. M. Tagers H. V. D. Bosch P. Aubourm 《黑龙江环境通报》1985,5(5):337-344
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome. 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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Christian Klixbüll Jørgensen 《Die Naturwissenschaften》1982,69(9):420-427
The “constituents” quarks and leptons of matter (with rest-mass) are compared with the historical development of “elements” in chemistry. If unsaturated quarks induce high (and at the moment unpredictable) rest-masses above l0GeV, we have a new view of nuclei comprising (2Z + N) u-quarks and (Z +2N) d-quarks in their low-energy states, without any reference to protons and neutrons as permanent building-blocks. Recent studies of quarks and possible rishons (sub-quarks) and technicolour hadrons are reviewed, and the rôle of identity and cardinality in quantum mechanics analyzed. 相似文献
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