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  • 1
    ISSN: 1432-1076
    Keywords: Trisomy G-21 ; Phosphofructokinase ; Deficiency in Erythrocytes ; Gene Locus ; Glycerophosphatedehydrogenase ; Erythrocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In den Erythrocyten eines Falles von Trisomie G-21 konnte im Gegensatz zu bisher vorliegenden Berichten eine Verminderung der Aktivität von Phosphofructokinase (PFK) gefunden werden. Daneben wurde eine hohe Aktivität der Glycerophosphatdehydrogenase und in geringerem Ausmaß auch anderer Enzyme nachgewiesen. Die mit dem PFK-Mangel in Zusammenhang stehenden Stoffwechselstörungen sowie die Frage der genetischen Lokalisation dieses Enzyms werden diskutiert.
    Notes: Abstract A deficiency of erythrocyte-phosphofructokinase has been demonstrated in a case of Trisomy-G-21. This is in contrast to findings of other authors who reported an increase of erythrocyte-PFK in cases of Down's syndrome. The metabolic changes caused by PFK deficiency and the problem of genetic localization of this enzyme are discussed. In addition an increased activity of glycerophosphate-dehydrogenase and, to a lesser degree, some other enzyme was found in the patients red blood cells.
    Type of Medium: Electronic Resource
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