
€57,48 €47,50 excl. VAT
Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol.
10 working days
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 certain kind of to accumulate in cells. The fat, 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