Browse result page of RareLSD

The total number entries retrieved from this search are 13
Disease_IDDisorderCategoryENZYME LEVEL IN PATIENT (nm/h/mg protein)Mannose-6-PhosphateGeneLocation
D_1047Fabry disease (alpha-galactosidase A)Gangliosidosisnr yesGLAcat enz
D_1048Schindler disease (alpha-galactosidase B)Gangliosidosisnr yesNAGAcat enz
D_1049GM1 gangliosidoses - GM1Gangliosidosis0.0-15.3 naGM2Acat enz
D_1050Sandhoff diseaseGangliosidosis33.0-382.0 yesHEXBcat enz
D_1051Tay–Sachs (disease AB variant)Gangliosidosis0.0-23.4 yesHEXAcat enz
D_1052Combined saposin deficiencyGangliosidosisnr yesPSAPaccessory protein
D_1053Gaucher disease type I Gangliosidosis0.0-4.6 yesGBAcat enz
D_1054Gaucher disease type II Gangliosidosisnr yesGBAcat enz
D_1055Gaucher disease type III Gangliosidosis0.0-4.0 yesGBAcat enz
D_1056Gaucher disease type IIIC Gangliosidosisnr yesGBAcat enz
D_1058Multiple sulfatase deficiency Gangliosidosisnr naSUMF1cat enz
D_1059Farber diseaseGangliosidosisnr yesASAH1cat enz
D_1060Krabbe diseaseGangliosidosis0.0-5.50 yesGALCcat enz