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The second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and β-galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies. Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for a-neuraminidase deficiency. 相似文献
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Fabio Ricci Roberto Cenciarini Alessandro Lorenzi Giorgio Famiglini Elisabetta Pierini Achille Cappiello 《Chemistry and Ecology》2016,32(1):88-102
The aim of this study was to monitor for the first time the oligosaccharide pattern in the northwestern Adriatic Sea. Oligosaccharides are components of the low-molecular-weight fraction of dissolved organic matter (DOM). They perform an important ecological function in the microbial loop prompting substrates for bacterial degradation. In particular, our investigation focused on maltooligosaccharides (glucose α 1–4 linked). The analyses were carried out using a dialysis-charcoal column sorption pre-concentration method, followed by liquid chromatography-tandem mass spectrometry analyses with a triple quadrupole mass spectrometer operating in multiple reaction monitoring mode. During the study period, the concentration of maltooligosaccharides with a low degree of polymerisation (ranging from maltose to maltotetraose) was higher than other maltooligosaccharides (maltopentaose and maltoeptaose) and all together they reached their highest concentration in June. This concentration was temporally shifted from a long period of diatom bloom (from January to April). Furthermore, the annual maltooligosaccharide trend was monitored together with several chemical, physical and biological parameters to investigate their potential role on the maltooligosaccharide accumulation. Our results suggested that the maltooligosaccharide accumulation could be related to the water column stratification. 相似文献
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