I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.
D001344:Autopsy; D001923:Brain Chemistry; D002239:Carbohydrate Metabolism, Inborn Errors / Q000473:pathology*; D002518:Ceramides / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts; D005732:Gangliosides / Q000378:metabolism; D006017:Glycolipids / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism* / Q000652:urine; D006644:Histiocytes; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008168:Lung / Q000473:pathology; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D008854:Microscopy, Electron; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics; D013107:Sphingolipids / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000032:analysis
D002518:Ceramides; D005732:Gangliosides; D006017:Glycolipids; D006025:Glycosaminoglycans; D013107:Sphingolipids; D013433:Sulfoglycosphingolipids