PedAM
Pediatric Disease Annotations & Medicines
| Disease | niemann-pick disease |
| Phenotype | C0085078|lysosomal storage disease |
| Sentences | 1 |
| 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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