Fabry disease |
<disease> Storage disease due to deficiency of ceramide trihexosidase. (18 Nov 1997) |
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fabry's disease |
<disease> Lysosomal storage disease caused by a deficiency of alpha-galactosidase a and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is characterised by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems. Inheritance: x-linked. (08 Mar 2000) |
Fabry, Johannes |
<person> German dermatologist, 1860-1930. See: Fabry's disease. (05 Mar 2000) |
fabry-perot interferometer |
<apparatus, physics> A type of interferometer with two parallel mirrors (with a variable separation of a few centimetres) arranged so that incoming light is reflected between them multiple times before ultimately being transmitted. Useful in spectroscopy because it gives very good frequency resolution without losing too much of the incident signal. (08 Mar 2000) |
Synonyms : Fabry's Disease, alpha-Galactosidase A Deficiency Disease, Anderson Fabry Disease, Disease, Fabry, Fabrys Disease, alpha Galactosidase A Deficiency Disease
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Fabry's disease
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출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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Fabry's disease
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Fabry's disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. The mutation causes a deficiency in alpha galactosidase A which is important in lipid catabolism. This leads to the accumulation of ceramide trihexoside in the cardiovascular and renal systems. ...
출처: en.wikipedia.org/wiki/Fabry's_disease
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Fabry's d.
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an X-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of α-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems. Clinical manifestations include telangiectases in the “bathing suit area,” corneal opacities, burning pain in the palms, soles, and abdomen, chronic paresthesias of the hands and feet, cardiopulmonary involvement, edema of the legs, osteoporosis, retarded growth, and delayed puberty. Patients usually die of renal failure or cardiac or cerebrovascular disease. Called also angiokeratoma corporis diffusum, diffuse angiokeratoma, α-galactosidase A deficiency, and ceramide trihexosidase deficiency.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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