Search Results - glucocerebrosidase+deficiency%3b+gaucher+disease

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A Mouse Model for Systemic Inflammation in Glucocerebrosidase-Deficient Mice with Minimal Glucosylceramide Storage
Gaucher disease, the most common lysosomal storage disease, is an inherited metabolic disorder in which harmful quantities of the lipid glucocerebroside accumulate in the spleen, liver, lungs, bone marrow and in rare cases in the brain, due to a deficiency of the enzyme glucocerebrosidase (Gba) that catalyses the first step in the biodegradation of...
Published: 4/8/2024   |   Inventor(s): Richard Proia
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, Gaucher Disease, Glucocerebrosidase deficiency; Gaucher Disease, HAD deficiency, HIS deficiency, Histidinemia, IDXXXX, IXXXXX, metabolic disorder
Category(s): Collaboration Sought > Licensing, Application > Diagnostics, Application > Research Materials, Application > Therapeutics