€57,48 €47,50 excl. VAT
Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol. This metabolic disorder allows a certain kind of fat, sphingomyelin, of to accumulate in cells. Sphingomyelin, accumulates in lysosomes (membrane-bound organelles in cells). The lysosomes are cell compartiments, responsible for the digestion of biomolecules.
Clinical features
Cats shows signs referrable to the cerebellum.
Additional information
References
Pubmed ID: 12809639
Omia ID: 725
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