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PedAM

Pediatric Disease Annotations & Medicines




Disease lysosomal storage disease
Phenotype C0023794|lipidosis
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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