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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.
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
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 ...
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 .
Sidney Farber (September 30, 1903 – March 30, 1973) was an American pediatric pathologist.He is regarded as the father of modern chemotherapy for his work using folic acid antagonists to combat leukemia, which led to the development of other chemotherapeutic agents against other malignancies.
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]
Dana–Farber Cancer Institute (DFCI) is a comprehensive cancer treatment and research center in Boston, Massachusetts.Dana-Farber is the founding member of the Dana-Farber/Harvard Cancer Center, Harvard's Comprehensive Cancer Center designated by the National Cancer Institute, and one of the 15 clinical affiliates and research institutes of Harvard Medical School.