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![Fabry Disease | Hereditary Ocular Diseases]()
disorders.eyes.arizona.eduFabry disease is a lysosomal enzyme (alpha-galactosidase A) deficiency resulting in the accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids throughout the body. The signature ocular manifestation is the whorl-like corneal pattern of瀏覽：510 -
![Orphanet Journal of Rare Diseases | Full text | Fabry disease]()
www.google.com.twFabry disease. Fabry's disease. Anderson-Fabry disease. Alpha-galactosidase A deficiency. Angiokeratoma corporis diffusum. Ceramide ...瀏覽：815
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日期：2024-07-13
21 Jul 2010 ... Fabry disease: a review of current management strategies. Mehta A(1), Beck M,
Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, ......
瀏覽：1471
日期：2024-07-11
5 Aug 2002 ... Fabry disease results from deficient activity of the enzyme ... A recent Cochrane
review has also highlighted the generally poor quality of ......
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日期：2024-07-10
Fabry disease: a review. Masson C(1), Cissé I, Simon V, Insalaco P, Audran M.
Author information: (1)Rheumatology department, CHU d'Angers, 49033 Angers
......
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日期：2024-07-11
J Pak Med Assoc. 2014 Feb;64(2):189-94. Fabry's disease--a comprehensive
review on pathogenesis, diagnosis and treatment. Mahmud HM. Fabry's is a ......
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日期：2024-07-07
4 Oct 2008 ... Summary. Fabry's disease is an X-linked lysosomal storage disorder caused by
... This review covers all basic aspects of the disease such as ......
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日期：2024-07-10
The authors, who represent eight subspecialties, performed a comprehensive
review of the relevant medical literature on Fabry disease. The outcome of this ......
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日期：2024-07-13
Fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-
galactosidase A (αGalA) due to mutations in the Gal gene at Xq22. The result is
intra....
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日期：2024-07-07
21 Jul 2010 ... This review aims to raise awareness of the signs and symptoms of Fabry disease;
to provide a general diagnostic algorithm and to give an ......
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