eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lysosomal storage disorders |
| Comorbidity | C0028064|niemann-pick disease |
| Sentences | 2 |
| PubMedID- 21113739 | Foamy transformation of macrophages is typically seen in lysosomal storage disorders in patients with niemann-pick disease, but foamy gaucher cells (gc) were previously reported only once, in the autopsy report. |
| PubMedID- 23582974 | Biochemical enzymatic analysis detected sphingomyelinase deficiency and lysosomal storage disease consistent with sphingomyelin lipidosis (niemann-pick disease [npd]) was diagnosed. |
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