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日期:2024-07-09
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true...
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日期:2024-07-11
Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α -galactosidase A (α -Gal A). Most males with no α -Gal A activity develop the classic phenotype of Fabry disease, which affects multiple orga...
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日期:2024-07-07
Sa • Sc • Se • Sh • Si • Sj–Sn • So • Sp • Sq–Ss • St • Su • Sw • Sy...
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日期:2024-07-12
Heart Diseases Children can be born with heart defects (called congenital heart disease). They can also develop heart problems due to a genetic syndrome or an illness (called acquired heart disease). Congenital Heart Defects Coarctation of the Aorta Eisen...
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日期:2024-07-06
Dermatologic Disease Database Contributors The medical information provided in this site is for educational purposes only and is the property of the American Osteopathic College of Dermatology. It is not intended nor implied to be a substitute for profess...
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日期:2024-07-13
La maladie de Fabry, ou syndrome de Ruiter-Pompen-Wyers est une maladie lysosomale génétique, liée au chromosome X, résultant d'un déficit enzymatique de l'alpha-galactosidase lysosomale avec accumulation de globotriaosylcéramide et de digalactosylceramid...
瀏覽:1495
日期:2024-07-08
De ziekte van Fabry is een zeldzame erfelijke aandoening die behoort tot de zogenaamde lysosomale stapelingsziekten. De aandoening wordt ook ziekte van Anderson-Fabry, angiokeratoma corporis diffusum, syndroom van Ruiter-Pompen-Wyers, Ceramide trihexosido...
瀏覽:685
日期:2024-07-12
Fabry hastalığı ( Anderson-Fabry hastalığı, Angiokeratoma corporis diffusum ve alfa-galaktosidaz A eksikliği olarak da bilinir) nadir görülen X'e bağlı resesif kalıtılan lizozomal depo hastalığıdır. Geniş bir yelpazede sistemik semptomlara neden olabilir....