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![Fabry Disease - Diseases & Conditions - Medscape Reference]()
emedicine.medscape.comFabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs and in epithelial and smooth muscle cells. Progressive endothelial accumulation of glycosphingol瀏覽：609 -
![National Fabry Disease Foundation]()
www.fabrydisease.orgThe National Fabry Disease Foundation (NFDF) is an organization dedicated to supporting the Fabry disease community ... Dani Goes to Fabry Family Camp ... by Dawn Laney with illustrator Michael Johnson. We are very pleased to announce two new educational瀏覽：395
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日期：2024-07-06
301500 - FABRY DISEASE - ANGIOKERATOMA CORPORIS DIFFUSUM;; ANDERSON-FABRY DISEASE;; HEREDITARY DYSTOPIC LIPIDOSIS;; ALPHA-GALACTOSIDASE A DEFICIENCY;; GLA DEFICIENCY;; CERAMIDE TRIHEXOSIDASE ... ......
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日期：2024-07-10
Anderson-Fabry Disease is also known as Fabry's disease; alpha-galactosidase. Anderson-Fabry Disease is a deficiency, hereditary dystopic lipidosis, Anderson-Fabry Disease ......
Orphanet Journal of Rare Diseases | Full text | Long term enzyme replacement therapy for Fabry disea
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日期：2024-07-12
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in...
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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：2024-07-13
Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme called alpha galactosidase A (a-GAL A), which is encoded by the GLA gene. In patients with Fabry disease, a-GAL A is either lacking or deficient. The disease is also known as...
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日期：2024-07-08
Fabry disease should be considered in patients with the isolated features detailed below or in those who show signs of multisystemic involvement in a pattern consistent with renal, cardiac, and cerebrovascular involvement. A detailed and complete medical ...
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日期：2024-07-10
Researchers from MIT have discovered a link between the size of a language-processing area of the brain and poor pre-reading skills in kindergartners. This finding, coupled with an MRI technique, could lead the way for an earlier dyslexia diagnosis. The s...
BMC Cardiovascular Disorders | Full text | Myocardial fibrosis as the first sign of cardiac involvem
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日期：2024-07-11
Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional t...
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