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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 46 free, full-text review articles. First few results:
[Current status and future prospect of enzyme replacement therapy for Fabry disease].
Last Updated: Aug 21, 2019

Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue. Clinical symptoms are varied. In childhood, pain in extremities, hypohidrosis, and angiokeratoma are main symptoms, ...

Fabry disease in cardiology practice: Literature review and expert point of view.
Last Updated: Jun 13, 2019

Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal α-galactosidase A. Men aged>30 years and women aged>40 years most often present with unexplained left ventricular hypertrophy, usually concentric and non-obstructive, ...

Hot topics in Fabry disease.
Last Updated: Jul 03, 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 ...

Full PubMed Review articles matches at NCBI:
46 Free Review Articles 208 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 27 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 453 free, full-text research articles. First few results:
Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report.
Last Updated: Aug 16, 2019

Fabry's disease is an X-linked inherited syndrome. Herein, we presented an unusual case of Fabry disease coexisting with immunoglobulin A nephropathy (IgAN) presenting with Alport syndrome-like pathological findings.

Central nervous system vasculopathy caused by Fabry disease: a case report.
Last Updated: Jul 22, 2019

Fabry disease is rare, and the diagnosis is often delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three-dimensional T1 volumetric isotropic turbo spin echo acquisition), with ...

Last Updated: Aug 23, 2019

- Fabry disease is a rare X-linked inherited lysosomal storage disease affecting multiple organ systems, presenting in the central nervous system (CNS) as white matter lesions with underlying cerebral vasculopathy and autoinflammatory changes of the choroid plexus and leptomeninges. ...

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453 Free Research Articles 1359 Research Articles