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  • 1
    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
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses (1989)
    Springer
    European journal of pediatrics 149 (1989), S. 31-39 
    Details
    ISSN: 1432-1076
    Keywords: Sphingolipid activator protein deficiency ; Farber disease ; Gaucher disease ; Krabbe disease ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a patient who presented shortly after birth with hyperkinetic behaviour, myoclonia, respiratory insufficiency and hepatosplenomegaly. Gaucher-like storage cells were found in bone marrow. A liver biopsy showed massive lysosomal storage morphologically different to that in known lipid storage disorders. Biochemically, the patient had partial deficiencies of β-galactocerebrosidase, β-glucocerebrosidase and ceramidase in skin fibroblast extracts, but the sphingomyelinase activity was normal. Glucosyl ceramide and ceramide were elevated in liver tissue. Loading of cultured fibroblasts with radioactive sphingolipid precursors indicated a profound defect in ceramide catabolism. Immunological studies in fibroblasts showed a total absence of cross-reacting material to sphingolipid activator protein 2 (SAP-2). The patient died at 16 weeks of age. The fetus from his mother's next pregnancy was similarly affected. The possibility that the disorder results from a primary defect at the level of SAP-2 is discussed. We have named this unique disorder SAP deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02024331
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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