Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?
D000328:Adult; D002524:Cerebellar Ataxia / Q000150:complications*; D004827:Epilepsy / Q000150:complications*; D005696:Galactosidases / Q000172:deficiency* / Q000378:metabolism; D005959:Glucosidases / Q000378:metabolism; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007668:Kidney / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008064:Lipidoses / Q000145:classification; D008099:Liver / Q000032:analysis / Q000201:enzymology / Q000648:ultrastructure; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D009207:Myoclonus / Q000150:complications*; D009460:Neurologic Examination; D010743:Phospholipids / Q000032:analysis; D012007:Rectum / Q000648:ultrastructure; D013106:Sphingolipidoses / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D013107:Sphingolipids / Q000032:analysis
D006025:Glycosaminoglycans; D010743:Phospholipids; D013107:Sphingolipids; D005696:Galactosidases; D005959:Glucosidases