Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain...
37 KB (3,906 words) - 03:49, 14 September 2024
recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). The...
18 KB (1,819 words) - 05:23, 3 April 2024
GLA (gene) (section Fabry disease)
attack, and stroke. This disease may have late onset and only affect the heart or kidneys. Fabry disease is an X-linked disease, affecting 1 in 40,000 males...
20 KB (1,933 words) - 01:32, 5 September 2024
actor Sphingolipidoses Lysosomal storage disease Niemann–Pick disease Fabry disease Tay–Sachs disease Krabbe disease Metachromatic leukodystrophy Medical...
30 KB (3,311 words) - 19:53, 23 August 2024
members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They...
10 KB (652 words) - 23:45, 13 August 2024
Jean Fabry (1876-1968), French politician Johannes Fabry, German dermatologist who provided the first description of Fabry disease Joseph Fabry, author...
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underlying the vasculopathy of Fabry disease. His initial work led to the identification of three inducible models of vascular disease in the alpha-galactosidase...
21 KB (2,404 words) - 19:43, 15 July 2024
for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. ERT does not correct the...
13 KB (1,367 words) - 23:00, 31 December 2023
characterized by hyperkeratosis. Angiokeratoma corporis diffusum refers to Fabry's disease, but this is usually considered a distinct condition. Presentation...
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Lipid storage disorder (redirect from Lipid storage disease)
Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple...
6 KB (682 words) - 06:29, 22 September 2024