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

2021年11月15日 · The most common form of ASAH1-related disorder is called Farber disease, which can present in several different ways. The most common presentation is characterized …

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 …

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 …

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 …

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 …

2007年6月29日 · Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes.

2018年3月29日 · The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).

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 …