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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 ]
For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's most common genetic disease, but only one of these mutations is found in non-Jewish groups. [5] A few diseases are unique to this group; familial dysautonomia, for example, is almost unknown in other peoples. [5]
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 ...
The risk assessment identifies women who can potentially benefit from an MRI. Local hospital promotes new cancer risk assessment tool -- and story of Olivia Munn. Skip to main content
Your Disease Risk is a publicly available health risk assessment tool on the Internet. [1] Launched in early 2000 and continually updated, the site offers risk assessments for twelve different cancers and four other important chronic diseases: heart disease, stroke, diabetes, and osteoporosis.
For example, various Global Burden of Disease Studies investigate such factors and quantify recent developments – one such systematic analysis analyzed the (non)progress on cancer and its causes during the 2010–19-decade, indicating that 2019, ~44% of all cancer deaths – or ~4.5 M deaths or ~105 million lost disability-adjusted life years ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is unsuitable. [14]In the European Union, miglustat (Opfolda), in combination with cipaglucosidase alfa, is a long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid α‑glucosidase [GAA] deficiency).