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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 ]
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.
Diagnosis of the lipid storage disorders can be achieved through the use of several tests. These tests include clinical examination, biopsy, genetic testing, molecular analysis of cells or tissues, and enzyme assays. Certain forms of this disease also can be diagnosed through urine testing, which detects the stored material.
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 ...
This can result in a variety of symptoms, many of which are severe and can affect the skeleton, brain, skin, heart, and the central nervous system. [8] Increasing the concentration of the missing enzyme within the body has been shown to improve the body's normal cellular metabolic processes and reduce substrate concentration in the body.
Tay–Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...
Those included nausea and vomiting, kidney stones, gastroesophageal reflux disease (GERD), sleep issues, stomach cramps, pancreatitis, and gastroparesis (i.e. stomach paralysis).
Diagnosis of PME is based on the individual's signs and symptoms as well as failure to respond to antiepileptic drugs and therapy. [3] Further diagnosis support includes EEG results, genetic testing, enzyme testing, and skin and muscle biopsies. [2] Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. [4]
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