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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.
Fabry disease; Familial alpha-lipoprotein deficiency; Familial amyloid polyneuropathy; Familial Amyloidosis, Finnish Type; Familial combined hyperlipidemia; Familial defective apolipoprotein B-100; Familial dysbetalipoproteinemia; Familial hypertriglyceridemia; Farber disease; Fibrocytic dysmucopolysaccharidosis; Fucosidosis
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]
It is a rare autosomal dominant disease caused by mutations in the DCN gene. [16] In this bilateral Snowflake, whitish opacities appear throughout the cornea. [17] The stromal lamellae are abnormal and may be separated by amorphous deposits. Moderate to severe vision loss may occur due to corneal opacity.
To increase the difficulty of daily walks, experts recommend adding weights for resistance and walking quickly enough to be out of breath. - Sorrasak Jar Tinyo/Moment RF/Getty Images
Higher risk of heart disease, stroke, high blood pressure, diabetes, and even lowered immune response to infectious diseases have all been traced back to isolation. It's not just loneliness in ...
A declared mayoral candidate, city Comptroller Brad Lander, is asking US health officials to determine whether ex-Gov. Andrew Cuomo's controversial March 25, 2020 order requiring nursing homes to ...
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 .