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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
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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.
Emmanuel Farber (October 19, 1918, Toronto, Canada – August 3, 2014, Columbia, South Carolina) was a Canadian-American physician, pathologist, biochemist, and oncologist. He is known for his research on the biochemistry of carcinogenesis .
Xiaole Shirley Liu (Chinese: 刘小乐) is a computational biologist, cancer researcher, and entrepreneur. [4] [2] [5] [6] [7] She has been a Professor in the Department of Data Sciences at the Dana-Farber Cancer Institute and Harvard T.H. Chan School of Public Health.
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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 ...
The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, [2] [3] with the United States and Northern European populations having slightly higher frequency with an occurrence of ...