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  • 1995-1999  (3)
Material
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Year
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 198-199 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 19 (1996), S. 661-666 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Protein kinase C (PKC) is a key enzyme in lipid-mediated signal transduction. Regulation of PKC activation is dependent upon the phospholipid constituents of cellular membranes. PKC is also activated by very long-chain and long-chaincis-unsaturated fatty acids. The present study was undertaken as a first step towards elucidating a possible role for PKC in the pathogenesis of Zellweger syndrome, in which there are both perturbation of plasma membrane phospholipids and accumulation of very long-chain fatty acids. PKC activity, phosphate uptake and endogenous substrate phosphorylation were examined in intact human skin fibroblasts from Zellweger patients. PKC catalytic activity was increased in the membranous fraction of Zellweger cells compared with control cells, with no apparent translocation of the enzyme from the cytosolic to the membranous compartment. Phosphate uptake was increased in both cytosolic and membranous fractions 2.5-fold and 4.5-fold, respectively. Several proteins were extensively phosphorylated in Zellweger cells compared with control cells. These findings indicate that PKC activity is perturbed in Zellweger cells, but the exact role of PKC in altered phosphate uptake and protein phosphorylation and its relevance to the pathogenesis of Zellweger syndrome require further study.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 769-780 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The present study was undertaken to characterize the variables that influence parental perception of metabolic disorders and their genetic origin before and after genetic counselling, the effect of counselling on parental attitudes towards prenatal diagnosis and pregnancy termination, and the factors affecting parental coping with burden. Parents of children with metabolic diseases from 32 Arab-Muslim families were interviewed, answering a pre-structured questionnaire. These interviews indicate the following. (1) Traditional belief and religious commitment are more important determinants than education in parental perception of inherited metabolic diseases. (2) The number of affected children has a greater impact on parental evaluation of the burden than the number of healthy children. The social component, i.e. the way families are viewed by society, is the most significant factor of the burden. (3) Parents use different techniques to divide responsibility regarding reproduction. Having a healthy child and the availability of prenatal diagnosis and pregnancy termination were the two most important factors in parental reproductive decision making. In the absence of a healthy child and when the burden was perceived as too heavy, parents tended ‘not to decide’. (4) Parental attitude to pregnancy termination was dependent on two factors: religious commitment (leading to objection) and severity of disease (leading to flexibility and approval). (5) In almost all families, genetic counselling altered parental perception of the disease and its hereditary origin. We conclude that genetic counselling and population education may be helpful in the prevention of consanguineous marriages and in family planning, even in a society that values traditional beliefs very highly.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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