Gaucher's disease

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Related to Gaucher disease: Niemann Pick disease
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Noun1.Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
References in periodicals archive ?
Gaucher Disease is caused by a deficiency or absence of an important enzyme called glucocerebrosidase, used to help breakdown a fatty substance in a specific area of certain cells.
The original UK 2005 National Guidelines for Gaucher Disease (1,2) are based on limited natural history and literature available at that time.
Cardiac involvement is rare in Gaucher disease and may be in the form of pulmonary hypertension, constrictive pericarditis, pericardial calcifications, various valvular lesions and infiltration of the myocardium.
Since my son's death in 1998 I have been scared to have any physical relationships as I don't want to find myself fathering another child with Gaucher disease, that would be heartbreaking.
The National Gaucher Foundation (NGF) was established in 1984 as a nonprofit organization dedicated to supporting and promoting research into the causes of Gaucher Disease. The mission of the NGF is to find a cure for Gaucher Disease by funding vital research programs and to promote community/physician awareness of the disease and educational programs.
An international team led by a National Institutes of Health researcher has found that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson's disease more than five times greater than the general public.
Amicus Therapeutics (Cranbury, NJ) announced the issuance on March 10, 2009 of United States Patent 7,501,439, titled "Tartrate Salt of Isofagomine and Methods of Use." The patent covers the tartrate salt form of isofagomine, the active ingredient in the company's investigational drug Plicera (afegostat tartrate), and its use for the treatment of Gaucher disease. The patent will expire in 2027.
Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome.
Subjects covered include the biochemical diagnosis of Gaucher disease, modulation of fatty acid molecular species in sulfatide and its precursor, the role of gangliosides in cellular interactions with microbe and immune cell activation, and the importance of gangliosides in mast cell biology.