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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease lysosomal storage disorders
Comorbidity C0037899|sphingolipidoses
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PubMedID- 24607565 The sphingolipidoses are a group of inherited lysosomal storage diseases in which sphingolipids accumulate due to the defective activity of one or other enzymes involved in their degradation.

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