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  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Human genetics 〈Berlin〉 36 (1977), S. 219-229 
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Six juvenile and adult patients with progressive neurological diseases and β-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemical points. Group 1 patients were characterized by progressive ataxia and myoclonus with gargoyle changes and macular cherry-red spots. In this syndrome β-galactosidase activity seems to be secondarily affected by other biochemical defects. A group 2 patient showed similar neurological manifestations without gargoyle changes or macular cherry-red spots. Patients with these clinical features not associated with β-galactosidase deficiency have also been described in the literature. Group 3 patients had progressive pyramidal and extrapyramidal disease without gargoyle changes or macular cherry-red spots. These cases may represent juvenile and adult type GM1-gangliosidosis. Accumulation of GM1 has not yet been demonstrated.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1615-2573
    Schlagwort(e): Microangiopathy ; Vascular changes ; Sarcoidosis ; Systemic granulomatosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Vascular involvement in sarcoidosis is briefly reviewed with emphasis on the outcome of a 10-year project-study by the Sarcoidosis Research Committee of the Japanese Ministry of Health and Welfare. Examples of vascular disorder associated with sarcoidosis are presented, including basal lamina layering of the capillaries in the skeletal muscle, cardiac muscle, and lung, glomerulopathy in the kidney, vascular changes in the ocular fundus and bronchi, and impaired peripheral circulation that could be detected by thermography. According to our tentative definition, all of these disorders should be collectively called microangiopathy. The possible role of microangiopathy in the pathogenetic mechanism of sarcoidosis is also discussed. Although microangiopathy in sarcoidosis is a comprehensive term, it should be included, in addition to systemic granulomatous disease, as part of the clinicopathological entity of sarcoidosis.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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