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  2. Gaucher's disease - Wikipedia

    en.wikipedia.org/wiki/Gaucher's_disease

    The National Gaucher Foundation (United States) states the incidence of Gaucher's disease is about one in 20,000 live births. [39] Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [ 40 ]

  3. 'Why Was I Constantly Bloated? Doctors Discovered The ... - AOL

    www.aol.com/lifestyle/why-constantly-bloated...

    The hematology specialist officially diagnosed me with Gaucher disease. The bone marrow biopsy confirmed my diagnosis of Gaucher disease—given that it’s genetic, it showed up in my DNA on the ...

  4. Substrate reduction therapy - Wikipedia

    en.wikipedia.org/wiki/Substrate_reduction_therapy

    If a safe pharmacological treatment can be developed, one that causes the increased expression of lysosomal sialidase in neurons, a new form of therapy, essentially curing the disease, could be on the horizon. [3] Metabolic therapies under investigation for Late-Onset TSD include treatment with the drug OGT 918 (Zavesca). [4] Gaucher's disease.

  5. Imiglucerase - Wikipedia

    en.wikipedia.org/wiki/Imiglucerase

    Imiglucerase is a medication used in the treatment of Gaucher's disease. [2] [3]It is a recombinant DNA-produced analogue of the human enzyme β-glucocerebrosidase. Cerezyme is a freeze-dried medicine containing imiglucerase, manufactured by Genzyme Corporation.

  6. Sphingolipidoses - Wikipedia

    en.wikipedia.org/wiki/Sphingolipidoses

    Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.

  7. Lipid storage disorder - Wikipedia

    en.wikipedia.org/wiki/Lipid_storage_disorder

    They are generally inherited in an autosomal recessive fashion, but Fabry disease is X-linked. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000. Enzyme replacement therapy is available mainly to treat Fabry disease and Gaucher disease and people with these types of sphingolipidoses may live well into adulthood ...

  8. Eliglustat - Wikipedia

    en.wikipedia.org/wiki/Eliglustat

    Eliglustat, sold under the brand name Cerdelga, is a medication used for the treatment of Gaucher's disease. It was discovered at the University of Michigan, developed by Genzyme Corp, and was approved by the FDA in August 2014. [7] Commonly used as the tartrate salt, the compound is believed to work by inhibition of glucosylceramide synthase.

  9. James A. Shayman - Wikipedia

    en.wikipedia.org/wiki/James_A._Shayman

    An early collaboration with Norman Radin focused on substrate reduction as an alternative to enzyme replacement therapy for the treatment of lysosomal disorders such as Gaucher disease. It was suggested that substrate reduction posits that inhibition of metabolites that accumulate in the lysosome due to the loss of activity of a specific ...

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