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PedAM

Pediatric Disease Annotations & Medicines




Disease niemann-pick disease
Symptom C0028064|sphingomyelinase deficiency
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PubMedID- 24502382 Sphingomyelin accumulation with or without significant sphingomyelinase deficiency are features of niemann-pick disease, of which subtypes a, c and d manifest with irreversible neurological damage.

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