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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.
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.
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In 2018, he was awarded a 5-year $3.3 million NIH grant for researching novel pharmaceuticals and diseases associated with altered levels of lipoproteins. [4] In 2002, together with Jamie Shuda he developed an outreach program named BioEYES which allowed students to gain hands-on biology experience by studying live zebrafish in the classroom.
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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 ...
Li joined the Broad Institute in 2009, working in the core faculty lab of David Altshuler, [11] [16] which investigates the discovery and understanding of the genetic causes of disease. As of December 2018, Li's papers on SAMtools [ 12 ] and BWA [ 13 ] (sequence alignment using the Burrows–Wheeler transform ) have both been cited over 16,000 ...
Williams raised millions for the disease. [7] After being discharged in 1948, Gustafson visited the Children's Hospital for follow-up treatments; getting rides from his Uncle in his pick-up truck from Maine to Boston. Dr. Farber privately kept in touch with Gustafson until he suffered a heart attack in his office in 1973. [7]