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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.
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. [8] Two transcript variants encoding distinct isoforms have been identified for this gene. [7]
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
These heavy metals have been linked to cancer, chronic disease and neurotoxic effects, ... “It will be interesting to see which companies don’t comply,” Farber said. “I expect some may ...
A deficiency in ASAH1 is associated with Farber disease.. Human neutral ceramidase (nCDase) is an enzyme that plays a critical role in colon cancer and there are currently no potent or clinically effective inhibitors for nCDase reported to date.
Enjoy a classic game of Hearts and watch out for the Queen of Spades!
It appears Jenn Tran’s relationship with Dancing With the Stars pro Sasha Farber is stronger than ever. Despite their DWTS journey coming to an end following the elimination of Tran, 27, and ...
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