Farber Lipogranulomatosis

Known as: Farber's Disease, Deficiency, N-Laurylsphingosine Deacylase, Deficiency, Acid Ceramidase 
A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1964-2017
024619642017

Papers overview

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2012
2012
The case of a 10-year-old boy with Farber lipogranulomatosis with predominant joint involvement, subacute, laryngeal and tongue… (More)
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2007
2007
BACKGROUND Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency… (More)
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2006
2006
AbstractFarber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the… (More)
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2006
2006
Glypican-3 (Gpc3), a cell surface-linked heparan sulfate proteoglycan is highly expressed during embryogenesis and is involved in… (More)
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2001
2001
Farber disease is a rare, autosomal recessively inherited sphingolipid storage disorder due to the deficient activity of… (More)
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1997
1997
Skin fibroblasts from patients with Farber disease (acid ceramidase deficiency) and from two siblings of the only known family… (More)
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1996
1996
We report a case of Farber lipogranulomatosis in a girl with hepatosplenomegaly, macular cherry-red spot, and subcutaneous… (More)
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Review
1995
Review
1995
  • M. Koga
  • Nihon rinsho. Japanese journal of clinical…
  • 1995
Farber's lipogranulomatosis is a disorder of lipid metabolism due to deficiency of lysosomal acid ceramidase. Since Farber… (More)
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1986
1986
Farber disease, a rare, inherited condition of lipid metabolism usually appears within the first two months of life. The patients… (More)
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1972
1972
Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas… (More)
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