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    OMIM Entry - # 301500 - FABRY DISEASE - OMIM - Online Mendelian Inheritance in Man
    瀏覽：1461
    日期：2024-07-07
    301500 - FABRY DISEASE - ANGIOKERATOMA CORPORIS DIFFUSUM;; ANDERSON-FABRY DISEASE;; HEREDITARY DYSTOPIC LIPIDOSIS;; ALPHA-GALACTOSIDASE A DEFICIENCY;; GLA DEFICIENCY;; CERAMIDE TRIHEXOSIDASE ... ......
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    Anderson-Fabry Disease. Fabry's disease information. Patient | Patient.co.uk
    瀏覽：998
    日期：2024-07-12
    Anderson-Fabry Disease is also known as Fabry's disease; alpha-galactosidase. Anderson-Fabry Disease is a deficiency, hereditary dystopic lipidosis, Anderson-Fabry Disease ......
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    Orphanet Journal of Rare Diseases | Full text | Fabry disease
    瀏覽：672
    日期：2024-07-08
    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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    Fabry disease - Orphanet Journal of Rare Diseases
    瀏覽：420
    日期：2024-07-10
    22 Nov 2010 ... Fabry disease (FD) is a progressive, X-linked inherited disorder of ..... in a patient affected with Fabry disease: axial brain MRI section showing ......
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    Enzyme replacement therapy for Fabry disease: a systematic review of available evidence.
    瀏覽：1358
    日期：2024-07-11
    1. Drugs. 2009 Nov 12;69(16):2179-205. doi: 10.2165/11318300-000000000-00000. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Schaefer RM, Tylki-Szymańska A, Hilz MJ. Fabry disease is a progressive and life ......
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    Treatment of Fabry disease
    瀏覽：974
    日期：2024-07-11
    Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher's disease. It is an X-linked inborn error of the glycosphingolipid metabolic pathway. This results in accumulation of globotriaos...
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    Fabry disease - Genetics Home Reference
    瀏覽：1026
    日期：2024-07-07
    Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Charact...
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    BMC Nephrology | Full text | Fabry nephropathy: a review ¿ how can we optimize the management of Fab
    瀏覽：969
    日期：2024-07-09
    Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and re...
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