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  • 1
    Electronic Resource
    Electronic Resource
    Neuropathology in glutaric acidaemia type 1 (1988)
    Springer
    Acta neuropathologica 76 (1988), S. 590-594 
    Details
    ISSN: 1432-0533
    Keywords: Glutaric acidaemia ; Striatal degeneration ; Spongiosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The neuropathology in three cases of glutaric acidaemia type 1 is presented. All three showed extensive neuronal loss in the caudate nucleus and the putamen, with only small numbers of large neurons surviving. The globus pallidus showed moderate shrinkage and gliosis but no conspicous decreases in neurons. Severe spongiform change was seen in many regions, involving predominantly white matter. These features are very similar to some cases described previously in familial striatal degeneration in childhood, but are different from other cases. If found in a brain at autopsy, they should lead to studies to diagnose glutaric acidaemia type 1 restrospectively, so that accurate genetic counselling and prenatal diagnosis in future pregnancies can be offered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00689597
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Neuropathology in cerebral lactic acidosis (1987)
    Springer
    Acta neuropathologica 74 (1987), S. 393-396 
    Details
    ISSN: 1432-0533
    Keywords: Lactic acidosis ; Cerebral malformation ; Degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The neuropathology in two young infants with cerebral lactic acidosis is presented. Both cases showed microcephaly, ventricular dilatation, absent corpus callosum, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial overgrowth into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix. The cerebellum, basal ganglia, Ammon's horn, inferior colliculi and layering of the cortex were well preserved. The features suggest a continuous damage with very old, relatively old and recent lesions. This striking combination of abnormalities should raise the possibility of a disturbance of lactate/pyruvate metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687218
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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