Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts.
D000581:Amidohydrolases / Q000032:analysis* / Q000172:deficiency; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000652:urine*; D002478:Cells, Cultured; D005190:Family; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005944:Glucosamine / Q000378:metabolism / Q000652:urine*; D006579:Heterozygote; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D008607:Intellectual Disability / Q000652:urine; D008247:Lysosomes / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis
D006596:Hexosaminidases; D000581:Amidohydrolases; D005944:Glucosamine