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Sphingolipidoses

"Sphingolipidoses" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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Definition   |   Details   |   More General Concepts   |   Related Concepts   |   More Specific Concepts
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.


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This graph shows the total number of publications written about "Sphingolipidoses" by people in UAMS Profiles by year, and whether "Sphingolipidoses" was a major or minor topic of these publications.
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