Lactosylceramidosis: lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts.
D001927:Brain Diseases / Q000201:enzymology* / Q000235:genetics; D002554:Cerebrosides / Q000378:metabolism*; D002849:Chromatography, Gas; D002855:Chromatography, Thin Layer; D046508:Culture Techniques; D005347:Fibroblasts / Q000201:enzymology*; D005690:Galactose; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006579:Heterozygote; D007785:Lactose; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D008064:Lipidoses / Q000201:enzymology / Q000235:genetics; D008099:Liver / Q000201:enzymology; D013107:Sphingolipids / Q000378:metabolism
D002554:Cerebrosides; D013107:Sphingolipids; D006026:Glycoside Hydrolases; D007785:Lactose; D005690:Galactose