Gaucher's disease

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Related to Gaucher disease: Niemann Pick disease
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  • noun

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a rare chronic disorder of lipid metabolism of genetic origin

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Here we describe a simple method for the simultaneous quantification of Cer and neutral glycosphingolipids in plasma and its application for monitoring G1cCer and Cer in patients with Gaucher disease on ERT and SRT and for ceramide trihexoside (CTH) and Cer in patients with Fabry disease on ERT.
Gaucher disease was first reported by French dermatologist, Phillipe Charles Ernest Gaucher, in 1882.
So-called pseudo-pseudo-Gaucher cells of CSH differ from those of Gaucher disease and chronic myelogenous leukemia by their refractile eosinophilic crystals with hematoxylin-eosin.
A Gaucher disease is an inherited disorder, the most common of the so-called "storage" disorders.
National procurement of intravenous drug for Gaucher disease.
Gaucher disease paradigm: From ERAD to comorbidity.
Methods: Clinical courses were reviewed in 30 patients with age (2-22 years) with Gaucher disease.
Genzyme disclosed on Tuesday the receipt of approval from the US Food and Drug Administration (FDA) for the only first-line oral therapy for certain adult Gaucher disease type 1 patients, Cerdelga (eliglustat) capsules.
The audit was performed as part of the Ministry of Health's evaluation of the company's manufacturing process of taliglucerase alfa for the treatment of Gaucher disease.
For instance, in the case of Gaucher disease substrate reduction therapy, medicines affect the production of fatty molecules so that the deposits are less and hence lesser enzymes are required to prevent accumulation.
was granted orphan-drug status for its experimental treatment for Gaucher disease.
Gaucher disease is a relentless progressive multi-systemic disorder caused by deficiency or inadequate function of lysosomal ?
The collaboration includes Amigal (migalastat hydrochloride) currently in Phase 2 clinical trials for the treatment of Fabry disease, Plicera (isofagomine tartrate) currently in Phase 2 clinical trials for the treatment of Gaucher disease, and AT2220 (deoxynojirimycin), which the company is currently studying in Phase 1 clinical trials for the treatment of Pompe disease.
Gaucher disease is an inborn error of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme [beta]-glucosidase (1,2).