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 ?
Seema Thakur, Genetic Consultant, Fortis Hospital, said: "It is essential to create awareness about Gaucher Disease, a rare but debilitating medical condition.
These guidelines are intended to enable all patients suffering from Gaucher disease to be diagnosed and offered the best possible care available.
This six-month study is designed to evaluate safety and to demonstrate trends of efficacy, as measured by the standard endpoints in Gaucher disease. Amicus previously reported that enrollment has been completed for the study and the company expects the results to be available in the third quarter of 2009.
Born in New Rochelle, N.Y., Meyer frequently was in the hospital as a child due to Gaucher disease, a rare genetic disorder that causes pain and deterioration of the joints and organs.
Currently, this therapy is used in the treatment of Gaucher disease type 1 (1, 2) and Fabry disease (3,4).
Gaucher disease is a rare, hereditary disease caused by lack of a lysosomal enzyme.
The chances of being born with the Gaucher Disease are one in 40,000, as both parents have to carry the mutant gene.
The group also wants the potential income from OGS's' niche Gaucher disease drug Zavesca.
Special stains (periodic acid-Schiff with diastase, Congo red, and colloidal iron) and presence of polarizable material can help rule out foreign material, such as silicone and polyvinylpyrrolidone (PVP).[1] Gaucher disease has long been confused with CSH, although Gaucher cells have paler, so-called wrinkled-paper cytoplasm.[3,4] Clinical features of splenomegaly and an abnormal glucocerebrosidase level are diagnostic.
A Gaucher disease is an inherited disorder, the most common of the so-called "storage" disorders.
Orphazyme, a public company trading on the Nasdaq Copenhagen exchange, is testing arimoclomol in several indications beyond NPC, including amyotrophic lateral sclerosis (ALS), Gaucher disease, and sporadic Inclusion Body Myositis (sIBM).
The company intends to use the net proceeds from the offering, in addition to its existing cash resources, to fund the support of the company's current programs in Fabry disease, Gaucher disease, cystinosis and Pompe disease, fund external and internal manufacturing and process development activities related to the company's programmes and to fund research and development activities that relate to all of the company's clinical and preclinical activities, including the cost of research and development personnel, and the remainder for planned general and administrative expenses, working capital and other general corporate purposes.