Browse result page of RareLSD
The total number entries retrieved from this search are 6| Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
|---|---|---|---|---|---|---|
| D_1086 | Cystinosis(adult nonnephropathic) | Lysosomal transport diseases | nr | na | CTNS | tp |
| D_1087 | Cystinosis(Late-onset juvenile or adolescent nephropathic type) | Lysosomal transport diseases | nr | na | CTNS | tp |
| D_1088 | Cystinosis(Infantile nephropathic ) | Lysosomal transport diseases | nr | na | CTNS | tp |
| D_1089 | Pycnodysostosis | Lysosomal transport diseases | nr | na | CTSK | cat enz |
| D_1090 | Salla disease / sialic acid storage disease | Lysosomal transport diseases | nr | na | SLC17A5 | tp |
| D_1091 | Infantile free sialic acid storage disease | Lysosomal transport diseases | nr | na | SLC17A5 | na |