Gaucher's disease

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  • noun

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a rare chronic disorder of lipid metabolism of genetic origin

References in periodicals archive ?
Runner up: 'Morena' (Argentina) - The story of young Morena from her diagnosis of Gaucher disease through to the present day and her passion for figure skating.
Few data on the frequency of Gaucher disease during reproductive age and pregnancy can be found in the literature and prevalent data have been reported in The Netherlands (2 per 100,000 live births), in Australia (1 per 57,000 live births) and Portugal (3 per 100,000 live births) (2).
Ahmed, who has been suffering from Gaucher disease Type- I, and was denied treatment by AIIMS as his parents were unable to pay ` 4.
The diagnosis of Gaucher disease is based on history, clinical evaluation, laboratory investigations and diagnostic imaging.
The study about the outcome of ten years' echocardiographic findings in children with Gaucher disease stated that follow up echocardiography was not necessary if baseline was normal.
Cambridge, MA, US - August 26, 2010 - Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announced today that the European Commission has granted marketing authorisation for VPRIV (velaglucerase alfa), a human cell line derived enzyme replacement therapy (ERT) for the long-term treatment of type 1 Gaucher disease.
The study, which reached its primary endpoint, demonstrated a mean reduction in spleen volume in both treatment arms studied (60 U/kg, 30 U/kg taliglucerase alfa) in patients with Gaucher disease in a highly significant statistical manner.
Meanwhile, Genzyme is developing another potential Gaucher disease drug, called eliglustat tartrate, formerly Genz-112638.
Gaucher disease was first reported by French dermatologist, Phillipe Charles Ernest Gaucher, in 1882.
Gaucher disease is an inborn error of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme [beta]-glucosidase (1,2).
TKT is conducting a clinical trial in Israel of its investigational gene-activated glucocerebrosidase (GA-GCB) for the treatment of Gaucher disease.
Gaucher Disease is an inherited enzyme deficiency disorder.
Gaucher disease is an autosomal recessive sphingolipid storage disorder that results from a deficiency of lysosomal [Beta]-glucocerebrosidase.
My cousin's child had what I think was Gaucher disease when she was very young, but she was always sick and died before the age of four.
Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), today announced positive new data from the Phase 3 ENGAGE and ENCORE studies of eliglustat tartrate, its investigational oral therapy for Gaucher disease type 1.