Enzyme defects in the sphingolipidoses and their application to diagnosis.
D002353:Carrier State / Q000175:diagnosis; D004796:Clinical Enzyme Tests; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000378:metabolism; D005808:Genes, Recessive; D005959:Glucosidases / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D009439:Neuraminidase / Q000378:metabolism; D010744:Phosphoric Monoester Hydrolases / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology; D013107:Sphingolipids / Q000378:metabolism*; D013109:Sphingomyelins; D013433:Sulfoglycosphingolipids
D013107:Sphingolipids; D013109:Sphingomyelins; D013433:Sulfoglycosphingolipids; D010744:Phosphoric Monoester Hydrolases; D005696:Galactosidases; D005959:Glucosidases; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D009439:Neuraminidase