OMIA 000405-9615 : Gaucher disease, type I in Canis lupus familiaris
In other species: pig , sheep Possibly relevant human trait(s) and/or gene(s) (MIM number): 230800 (trait) Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of glucocerebroside in various tissues, due to the lack of the enzyme beta-glucocerebrosidase, whose task is to break down glucocerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells).
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1982||Farrow, BR., Hartley, WJ., Pollard, AC., Fabbro, D., Grabowski, GA., Desnick, RJ. :|
|Gaucher disease in the dog. Prog Clin Biol Res 95:645-53, 1982. Pubmed reference: 6812090.|
|1979||Van De Water, NS., Jolly, RD., Farrow, BR. :|
|Canine Gaucher disease--the enzymic defect. Aust J Exp Biol Med Sci 57:551-4, 1979. Pubmed reference: 44841.|
|1973||Hartley, W.J., Blakemore, W.F. :|
|Neurovisural glucocerebroside storage (Gaucher's disease) in a dog Veterinary Pathology 10:191-201, 1973. Pubmed reference: 4798391.|
- Created by Frank Nicholas on 06 Sep 2005