Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D009081:Mucolipidoses / Q000378:metabolism*; D009439:Neuraminidase / Q000172:deficiency*; D012794:Sialic Acids / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
D012794:Sialic Acids; D009439:Neuraminidase