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  • 1
    Electronic Resource
    Electronic Resource
    Activator protein deficient Gaucher's disease (1989)
    Springer
    Journal of molecular medicine 67 (1989), S. 999-1003 
    Details
    ISSN: 1432-1440
    Keywords: A1 activator deficiency ; Glucosylceramide ; Neuronopathic Gaucher's disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A report is presented based on the biochemical and immunochemical studies of various tissues from a 15-year-old boy with a neuronopathic form of Gaucher's disease. Qualitative and quantitative lipid analyses revealed a storage of glucosylceramide. The striking feature was that, employing the usual assay methods, a normal activity of the lysosomal enzyme glucosylceramidase was revealed, despite massive lipid accumulation. Immunochemical assays of hepatic and splenic tissue extracts from this atypical Gaucher's patient disclosed the absence of A1 activator protein, which is necessary for the enzymic degradation of glucosylceramide in vivo. This is the second documented case of a patient presenting with glucosylceramide activator protein deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01716064
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Leptomeningeal lipid storage patterns in Fabry disease (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 579-582 
    Details
    ISSN: 1432-0533
    Keywords: Key words     Fabry disease ; Leptomeningeal storage ; External arachnoideal epithelium ; Restricted type ; of visceral storage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      We found two patterns of leptomeningeal storage that reflect two basic visceral storage patterns in Fabry disease. (i) A generalized-type leptomeningeal storage pattern, affecting all main leptomeningeal cell types (external arachnoideal epithelium, fibroblasts, vessel wall elements), was a consistent finding in three cases of classical generalized visceral phenotype. (ii) A localized leptomeningeal storage pattern was expressed, to a high degree, solely in the external arachnoidal epithelium; this pattern was found in one case with the variant visceral-restricted-type storage (confined to the cardiocytes). Thus, the external arachnoidal epithelium may be particularly susceptible to Fabry lipid storage, probably caused by a distinctly larger sustained lysosomal lipid load as compared to other cell types.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296496
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Leptomeningeal lipid storage patterns in Fabry disease (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 579-582 
    Details
    ISSN: 1432-0533
    Keywords: Fabry disease ; Leptomeningeal storage ; External arachnoideal epithelium ; Restricted type of visceral storage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We found two patterns of leptomeningeal storage that reflect two basic visceral storage patterns in Fabry disease. (i) A generalized-type leptomeningeal storage pattern, affecting all main leptomeningeal cell types (external arachnoideal epithelium, fibroblasts, vessel wall elements), was a consistent finding in three cases of classical generalized visceral phenotype. (ii) A localized leptomeningeal storage pattern was expressed, to a high degree, solely in the external arachnoidal epithelium; this pattern was found in one case with the variant visceral-restricted-type storage (confined to the cardiocytes). Thus, the external arachnoidal epithelium may be particurlarly susceptible to Fabry lipid storage, probably caused by a distinctly larger sustained lysosomal lipid load as compared to other cell types.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296496
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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