Gaucher's 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 ?
Born with Gaucher's Disease, he started fighting from the day that he got his diagnosis.
Indeed, life may be tough for individuals who suffer from Gaucher's disease, a rare and inherited disorder wherein the deficiency of enzyme called beta-glucocerebrosidase (that is produced in our cells) results in the accumulation of a fatty substance called glucocerebroside into a sugar and a simpler fat molecule throughout the body, more often in the bone marrow, spleen and liver.
[USPRwire, Tue Oct 13 2015] Global Markets Direct's, 'Gaucher's Disease - Pipeline Review, H2 2015', provides an overview of the Gaucher's Disease's therapeutic pipeline.
Gaucher's disease: clinical features and natural history.
Nisman et al., "Cytokines in Gaucher's disease," European Cytokine Network, vol.
According to the plea, the rickshaw- puller has already lost four children to Gaucher's disease that affects many organs and tissues.
A final diagnosis was made based on the confirmatory investigations as 70% (23 cases) being glycogen storage disease, 15% (5 cases) being Gaucher's disease and the other 15% (5 cases) being Niemann-Pick's disease.
[ClickPress, Mon Jul 01 2013] Global Markets Direct's, 'Gaucher's Disease - Pipeline Review, H1 2013', provides an overview of the indication's therapeutic pipeline.
Risk factors for osteonecrosis in patients with type 1 Gaucher's disease. Clin Orthop 1999;362:201-207.