GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.
D001706:Biopsy; D001921:Brain / Q000201:enzymology; D001923:Brain Chemistry; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002845:Chromatography; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000032:analysis / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000032:analysis / Q000652:urine; D006801:Humans; D007633:Keratins / Q000652:urine; D007962:Leukocytes / Q000201:enzymology; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D008297:Male; D009439:Neuraminidase / Q000032:analysis; D009461:Neurologic Manifestations; D010375:Pedigree; D013431:Sulfates / Q000652:urine; D014556:Urine / Q000032:analysis
D005732:Gangliosides; D006025:Glycosaminoglycans; D013431:Sulfates; D007633:Keratins; D005696:Galactosidases; D009439:Neuraminidase