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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease niemann-pick disease
Comorbidity C0085078|lysosomal storage disease
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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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