Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology; D001344:Autopsy; D001706:Biopsy; D002478:Cells, Cultured; D002554:Cerebrosides; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000378:metabolism; D006579:Heterozygote; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology*; D014316:Tritium
D002554:Cerebrosides; D014316:Tritium; D005696:Galactosidases; D006596:Hexosaminidases