A new variant of Sandhoff's disease.
D001065:Appendix / Q000473:pathology; D001219:Aspartate Aminotransferases / Q000097:blood; D002784:Cholesterol / Q000032:analysis; D002658:Developmental Disabilities / Q000209:etiology; D005347:Fibroblasts / Q000201:enzymology; D005724:Ganglia / Q000473:pathology; D005732:Gangliosides / Q000378:metabolism*; D006596:Hexosaminidases / Q000032:analysis / Q000097:blood; D006601:Hexoses / Q000378:metabolism; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000032:analysis / Q000201:enzymology / Q000378:metabolism; D008297:Male; D009438:Neuraminic Acids / Q000378:metabolism; D010743:Phospholipids / Q000032:analysis; D012640:Seizures / Q000209:etiology; D013106:Sphingolipidoses / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome; D013696:Temperature; D014574:Uronic Acids / Q000652:urine
D005732:Gangliosides; D006601:Hexoses; D007527:Isoenzymes; D009438:Neuraminic Acids; D010743:Phospholipids; D014574:Uronic Acids; D002784:Cholesterol; D007770:L-Lactate Dehydrogenase; D001219:Aspartate Aminotransferases; D006596:Hexosaminidases