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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.
This disease belongs to Lysosomal Storage Diseases(LSDs). [2] Because of complete saposin deficiency, it can cause clinical features of 4 diseases( Gaucher’s Disease , Metachromatic Leukodystrophy , Farber’s Disease , Krabbe’s Disease ) to be apparent.
Although it has been defined as an extension of pneumoconiosis, there is no scientific evidence for a similar disease related to volcanic silica particle exposures. [ 8 ] Subsequently, the word was used in Frank Scully 's puzzle book Bedside Manna , after which time, members of the N.P.L. campaigned to include the word in major dictionaries.
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.
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Familial dysbetalipoproteinemia (broad beta disease, remnant removal disease) Familial hypertriglyceridemia; Farber disease (fibrocytic dysmucopolysaccharidosis, lipogranulomatosis) Fucosidosis; Gaucher's disease; Gout (podagra, urate crystal arthropathy, urate deposition disease) Hartnup disease (pellagra-like dermatosis) Hemodialysis ...
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 .
Free sialic acid storage disease; Freeman–Sheldon syndrome; Freiberg's disease; Freire–Maia odontotrichomelic syndrome; Freire–Maia–Pinheiro–Opitz syndrome; Frenkel–Russe syndrome; Frey's syndrome; Frias syndrome; Fried–Goldberg–Mundel syndrome; Friedel–Heid–Grosshans syndrome; Friedman–Goodman syndrome; Friedreich ataxia ...