[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].
D000293:Adolescent; D000328:Adult; D001769:Blood; D002518:Ceramides; D002554:Cerebrosides; D002648:Child; D003374:Coumarins; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics; D005959:Glucosidases / Q000097:blood*; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D013110:Sphingosine; D014316:Tritium
D002518:Ceramides; D002554:Cerebrosides; D003374:Coumarins; D014316:Tritium; D005959:Glucosidases; D013110:Sphingosine
Nachweis des Enzymdefekts und vorläufige Identifizierung der Heterozygoten in einer Familie mit M. Gaucher Typ I