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Fabry Disease

Anderson-Fabry DiseaseCeramide Trihexosidosis
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Fabry Disease" returned 42 free, full-text review articles. First few results:
Hot topics in Fabry disease.
Last Updated: Feb 15, 2019

Fabry disease is a rare inborn error of the enzyme α-galactosidase (α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years, in particular since enzyme replacement ...

European expert consensus statement on therapeutic goals in Fabry disease.
Last Updated: Mar 08, 2019

Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease ...

Diagnosis and treatment of the cardiovascular consequences of Fabry disease.
Last Updated: Jan 14, 2019

Fabry disease (FD) has been a diagnostic challenge since it was first recognized in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, ...

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42 Free Review Articles 202 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Fabry Disease" returned 10 free, full-text editorial articles. First few results:
Full PubMed Editorials matches at NCBI:
10 Free Editorials 23 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Fabry Disease" returned 432 free, full-text research articles. First few results:
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Last Updated: Mar 06, 2019

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding ...

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432 Free Research Articles 1302 Research Articles