Neuraminidase deficiency in the cherry red spot-myoclonus syndrome.
D006801:Humans; D008268:Macular Degeneration / Q000201:enzymology* / Q000235:genetics / Q000652:urine; D009207:Myoclonus / Q000201:enzymology* / Q000235:genetics / Q000652:urine; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D012162:Retinal Degeneration / Q000201:enzymology*; D013577:Syndrome
D009844:Oligosaccharides; D009439:Neuraminidase