[Sandhoff disease or GM2 gangliosidosis, type 2. High frequency of the gene in a native population].
D000118:Acetylglucosaminidase / Q000378:metabolism*; D001118:Argentina; D002540:Cerebral Cortex / Q000648:ultrastructure; D002855:Chromatography, Thin Layer; D004848:Epithelium / Q000648:ultrastructure; D005006:Ethnicity; D005260:Female; D005732:Gangliosides / Q000032:analysis; D005787:Gene Frequency; D005817:Genetic Counseling; D006596:Hexosaminidases / Q000172:deficiency / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D012497:Sandhoff Disease / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D013030:Spain / Q000208:ethnology
D005732:Gangliosides; D006596:Hexosaminidases; D000118:Acetylglucosaminidase
Enfermedad de Sandhoff o gangliosidosis GM2, tipo 2. Alta frequencia del gen en una población criolla.