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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 ...

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, ...

Non-specific gastrointestinal features: Could it be Fabry disease?
Last Updated: Oct 16, 2018

Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease. The confounding clinical presentation and rarity ...

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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 420 free, full-text research articles. First few results:
High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.
Last Updated: Jan 18, 2019

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A. The families of 11 index cases were screened by enzyme and molecular assays. Further clinical and laboratory investigations were carried out in all cases. Including 33 new patients, a total of 28 ...

Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease.
Last Updated: Feb 15, 2019

Anderson-Fabry disease is a rare X-linked lysosomal storage disease caused by α-galactosidase A (α-GalA) gene variants and characterized by a large genotypic and phenotypic spectrum. Enzyme replacement therapy (ERT) using recombinant α-GalA has been approved for > 10 years as a ...

Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.
Last Updated: Jan 09, 2019

Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male population ...

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