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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
Gaucher's disease affects the lysosomes, which are the so-called garbage recyclers of our cells.
The report reviews key players involved in the therapeutics development for Gaucher's Disease and enlists all their major and minor projects
Coverage of the Gaucher's Disease pipeline on the basis of route of administration and molecule type.
This study is likely to motivate clinical trials for the treatment of neuropathic lysosomal storage diseases, including Gaucher's disease, where the current standard of care, enzyme replacement therapy, is ineffective," Nature quoted team leader Dr.
Shire Pharmaceuticals PLC is also seeking approval in the United States to sell a drug for Gaucher's disease.
Novel oral treatment of Gaucher's disease with lubutyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis.
Acute bilateral symmetrical pathologic fractures of the lateral tibial plateaus in a patient with Gaucher's disease.
Last month, the European Union approved a version of NB-DNJ called miglustat for Gaucher's disease, a debilitating genetic disorder.
The group has almost got thethumbs up for its Gaucher's disease drug in Europe; it has already got the go- ahead in America.
His brother-in-law, Ron Dorfman, said Levin suffered from Gaucher's disease, an inherited enzyme-deficiency disorder that causes victims to bleed and bruise easily.