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  • 1
    Electronic Resource
    Electronic Resource
    Purification and characterization of human liver β-galactosidase from a patient with the adult form of G"M"1 gangliosidosis and a normal control
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/General Subjects 964 (1988), S. 244-253 
    Details
    ISSN: 0304-4165
    Keywords: Enzyme property ; G"M"1 ; Gangliosidosis ; β-Galactosidase deficiency
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0304-4165(88)90172-9
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  • 2
    Electronic Resource
    Electronic Resource
    MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study (2000)
    Springer
    Acta neuropathologica 99 (2000), S. 31-38 
    Details
    ISSN: 1432-0533
    Keywords: Key words MELAS ; mtDNA 3243 point mutation ; Cactus formation ; Neuronal damage ; Neuropathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a neuropathological examination of the central nervous system from seven autopsied patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Five of the seven cases were confirmed to have the mitochondrial DNA (mtDNA) 3243 point mutation. In addition to the changes reported previously, diffuse atrophy of the cerebral and cerebellar cortices, diffuse gliosis of cerebral and cerebellar white matter, and cactus formation of Purkinje cells were observed. Electron microscopy revealed accumulation of mitochondria in the cactus formations. These lesions are common in MELAS with the mtDNA 3243 point mutation, but cannot be explained solely by mitochondrial angiopathy, and suggest that intrinsic mitochondrial malfunction contributes to neuronal damage in MELAS pathology. Moreover, the pathological changes observed in the cerebellum suggest that cerebellar function should be evaluated more carefully at the clinical level.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00007403
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  • 3
    Electronic Resource
    Electronic Resource
    Intramedullary spinal cord metastasis (1983)
    Springer
    Acta neuropathologica 61 (1983), S. 214-218 
    Details
    ISSN: 1432-0533
    Keywords: Intramedullary metastasis ; Spinal cord ; Hematogenous spread
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This report describes the pathologic findings in five autopsy cases with intramedullary spinal cord metastasis. In an autopsy series over a 30-year period, the incidence of intramedullary metastasis among the metastatic tumors to the spine was 3.5%, and the incidence among the central nervous system (CNS) metastasis was 4.2%. Primary site of tumor was the lung in four cases, and cancer of the thyroid was suspected in one case. On transverse section, the tumor was located mainly in the ventral part of the posterior horn and the medial part of the lateral column. Involvement was focal extending over one to six segments. In two cases, secondary hemorrhage occurred in the posterior horn or the posterior column. In three cases, central ischemic infarction was noted cephalad and caudad to the tumor metastasis. The mode of tumor spread to the spinal cord is not clear, but the autopsy findings in our series suggest that intramedullary tumor may result from hematogenous spread via the arterial circulation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691988
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  • 4
    Electronic Resource
    Electronic Resource
    Pathological studies of aberrant peripheral nerve bundles of spinal cords (1989)
    Springer
    Acta neuropathologica 79 (1989), S. 18-22 
    Details
    ISSN: 1432-0533
    Keywords: Aberrant peripheral nerve bundles ; Nerve root ; Spinal cord ; Aging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Aberrant peripheral nerve fiber bundles, i.c., masses of peripheral nerve fibers without perineural sheath cells, are found in the perivascular spaces of some spinal cords. The 514 spinal cords examined for these structures were separated into two groups; 507 spinal cords without definite necrotic lesions (group 1) and 7 spinal cords (group 2) with old necrotic lesions in which there were numerous aberrant peripheral nerve bundles (APNB). In group 1, APNB were found in 41.0% of spinal cords. The incidence was the same for both sexes and increased in proportion to age. APNB were found predominantly in the middle and lower thoracic segments. On the transverse sections, APNB were located mainly in the central gray matter and in the anterior median fissure. Ultrastructural and histochemical studies showed that the myelin in APNB was peripheral in origin. Serial sections showed continuity between APNB and nerve roots. In group 2 cases, APNB were diffusely distributed throughout the old necrotic lesions and not restricted to perivascular areas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00308951
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    Paper (German National Licenses)
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