Mucolipidosis type IV: ganglioside sialidase deficiency.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005732:Gangliosides; D005838:Genotype; D006801:Humans; D009081:Mucolipidoses / Q000201:enzymology* / Q000235:genetics; D009439:Neuraminidase / Q000172:deficiency*; D012867:Skin / Q000201:enzymology; D013379:Substrate Specificity
D005732:Gangliosides; D009439:Neuraminidase