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  • 1
    Electronic Resource
    Electronic Resource
    Enzymes in Cultivated Human Fibroblasts derived from Patients with Down's Syndrome (Mongolism) (1967)
    [s.l.] : Nature Publishing Group
    Nature 213 (1967), S. 1261-1262 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Tissue culture techniques did not show any difference in concentrations of acid phosphatase and (3-glucuronidase between strains derived from patients with Down's syndrome, 18 trisomy syndrome andDtrisomy syndrome16. No difference between two strains of fibroblasts derived from Down's syndrome ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/2131261a0
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression? (1979)
    [s.l.] : Nature Publishing Group
    Nature 282 (1979), S. 98-100 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Skin fibroblasts from patients with multiple sulphatase deficiency (n = 3), metachromatic leukodystrophy (n = 2) and Maroteaux-Lamy syndrome (n = 2), as well as controls (n = 5), were grown as previously described. Cultures were also maintained in HEPES-CO2 as described by Fluharty et al?, who ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/282098a0
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  • 3
    Electronic Resource
    Electronic Resource
    Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease (1983)
    Springer
    Journal of inherited metabolic disease 6 (1983), S. 95-100 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Increase in total hexosaminidase activity has been observed during heat treatment of serum and leukocyte specimens from a 1-year-old boy with cherry-red spot and severe and progressive mental and motor deterioration. The activity increased 40% in the first 40–70 min of incubation at 50°C and pH 4.3, but declined thereafter and was only slightly above the initial activity in the final 2–3 h of incubation. Heat treatment of specimens from family members revealed very reduced rates of inactivation of hexosaminidase in the proband's father and some paternal relatives, whereas those of the mother and some maternal relatives were indistinguishable from those of Tay-Sachs carriers. Mixing experiments with enzyme preparations from the proband, normal controls and patients with Tay-Sachs disease resulted in additive values and did not support the possibility of inhibitor- or activator-related defect. Fractionation of heat-treated samples by ion exchange chromatography and electrophoresis, as well as examination of the separated fractions for their thermostability, have shown that hexosaminidase A is the activated component and hexosaminidases B, I1 and I2 are not affected. These findings suggest that the patient is a genetic compound and the apparent thermal activation is probably due to formation of hexosaminidase A from altered α-subunits produced by the paternal mutant α-allele and β-subunits produced by the normal β-alleles.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800733
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  • 4
    Electronic Resource
    Electronic Resource
    Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid (1968)
    Springer
    Biochemical genetics 2 (1968), S. 119-126 
    Details
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Fetal cells obtained from amniotic fluid at various stages of pregnancy were successfully cultivated. Quantitative enzyme analysis and qualitative enzyme analysis, utilizing starch gel electrophoresis, were performed. Increased glucose 6-phosphate dehydrogenase activity associated with a decreased percentage of sex chromatin positive cells were found in cells derived from two 10-week female fetuses. After 6 weeks, these cultures contained normal levels of glucose 6-phosphate dehydrogenase activity and normal numbers of sex chromatin positive cells. Qualitative changes of glucose 6-phosphate dehydrogenase and lactate dehydrogenase were demonstrated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01458711
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    Paper (German National Licenses)
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