[Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)].
D000293:Adolescent; D002518:Ceramides; D005260:Female; D005688:Galactosamine; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008099:Liver / Q000201:enzymology*; D009438:Neuraminic Acids; D013106:Sphingolipidoses / Q000201:enzymology*
D002518:Ceramides; D009438:Neuraminic Acids; D005688:Galactosamine; D006596:Hexosaminidases
Juvenile GM2-gangliosidose mit veränderter Substratspezifität der Hexosaminidase A