Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1 -related disorders) is an extremely rare, progressive, …

Farber disease (FD) is a rare genetic disorder. It is one of the lysosomal storage disorders. Lysosomes are structures found inside almost every cell of the body. Lysosomes contain …

Farber disease (Lipogranulomatosis) is a rare, invariably fatal, inherited metabolic disorder first described by Sidney Farber in 1957 (Farber et al, 1957). Farber disease is inherited in an …

What is Farber Disease? Farber disease is an autosomal recessive disorder caused by mutations in the ASAH1 gene, which encodes the enzyme acid ceramidase. This enzyme is responsible …

Farber disease is caused by mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene (8p22) which encodes acid ceramidase, a lysosomal enzyme that hydrolyzes ceramide into …

Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty …

Jun 29, 2007 · Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes.

Farber Disease is an autosomal recessive inherited lysosomal storage disorder which is characterized by tissue accumulation of ceramide. It is caused by mutations within ASAH1 …

Children who have the classic form of Farber's disease develop symptoms within the first few weeks of life. It is characterized by a clinical triad including painful joint deformity, …

Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (a process known as lipid metabolism). In affected individuals, lipids accumulate …