Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.
D000581:Amidohydrolases / Q000378:metabolism*; D001224:Aspartic Acid / Q000378:metabolism; D002478:Cells, Cultured; D002852:Chromatography, Ion Exchange; D002854:Chromatography, Paper; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D005944:Glucosamine / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics
D001224:Aspartic Acid; D000581:Amidohydrolases; D005944:Glucosamine