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The primary genetic defect in acute intermittent porphyria is a decreased uroporphyrinogen I-synthetase [EC.4.3.1.8] activity. As a beginning of a genealogical study of the known families with members suffering from this disease in the People's Republic of Bulgaria, the red cell uroporphyrinogen I-synthetase was determined in 3 families by the method of Mandel et al [8]. Except for the three propositi, an enzyme deficiency was established in 3 latent carriers of the pathological gene, two of whom had normal values of the urinary epsilon-aminolevulinic acid and porphobilinogen. The determination of red cell uroporphyrinogen I-synthetase proved to be a valuable parameter for revealing the latent AIP. 相似文献
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Vezenkov Lyubomir T. Danalev Dancho L. Iwanov Iwan Lozanov Valentin Atanasov Atanas Todorova Rumyana Vassilev Nikolay Karadjova Veronika 《Amino acids》2022,54(6):897-910
Amino Acids - The Alzheimer’s disease leads to neurodegenerative processes and affecting negatively million people worldwide. The treatment of the disease is still difficult and incomplete in... 相似文献
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The molecular weight distribution of sinistrin (Inutest ®, Laevosan Ges., Linz, Austria), determined by analytical gel-permeation chromatography, using narrow fractions (wn< 1.07) obtained by preparative gel-permeation chromatography, covered the range 800–16,000 with n 2,500 and w 3,500. From viscosity measurements on dilute, aqueous solutions, the relation [η] 0.28 X M0.3 was obtained, indicating a branched molecular structure; the largest molecules can be described by a sphere with r 23 Å. Comparison of the content of glucose and reducing sugars in the fractions with the molecular weight determined by vapour-pressure osmometry indicated that a glucose end-group is present in the majority of the molecules. The percentage of glucose end-groups is higher in the fractions of lower molecular weight. From this finding, speculations on the biosynthesis of sinistrin are made. The specific optical rotation of sinistrin fractions decreases linearly with 1/n. 相似文献
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