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Fabry Disease (Fabry's Disease)

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Also Known As:
Fabry's Disease; Anderson Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; Angiokeratoma, Diffuse; Ceramide Trihexosidase Deficiency; GLA Deficiency; Hereditary Dystopic Lipidosis; alpha-Galactosidase A Deficiency; alpha-Galactosidase A Deficiency Disease; Deficiency, Ceramide Trihexosidase; Deficiency, GLA; Deficiency, alpha-Galactosidase A; Diffuse Angiokeratoma; Lipidosis, Hereditary Dystopic; alpha Galactosidase A Deficiency; alpha Galactosidase A Deficiency Disease; Anderson-Fabry Disease
Networked: 2915 relevant articles (150 outcomes, 291 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Gaucher Disease (Gaucher's Disease)
2. Pain (Aches)
3. Disease Progression
4. Glycogen Storage Disease Type II (Pompe's Disease)
5. Stroke (Strokes)

Experts

1. Schiffmann, Raphael: 72 articles (12/2021 - 01/2002)
2. Wanner, Christoph: 69 articles (06/2022 - 01/2003)
3. Germain, Dominique P: 67 articles (11/2021 - 01/2002)
4. Desnick, Robert J: 56 articles (11/2021 - 04/2002)
5. Sakuraba, Hitoshi: 43 articles (01/2022 - 10/2002)
6. Pisani, Antonio: 40 articles (06/2022 - 07/2005)
7. Hollak, Carla E M: 40 articles (08/2020 - 08/2003)
8. Warnock, David G: 39 articles (06/2022 - 03/2005)
9. Weidemann, Frank: 38 articles (02/2022 - 05/2003)
10. Feldt-Rasmussen, Ulla: 37 articles (06/2022 - 03/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fabry Disease:
1. EnzymesIBA
2. agalsidase betaFDA Link
3. agalsidase alfaIBA
4. GalactosidasesIBA
5. alpha-Galactosidase (Beano)IBA
6. Biomarkers (Surrogate Marker)IBA
7. globotriaosylceramide (globotriosylceramide)IBA
8. migalastatIBA
9. globotriaosyl lysosphingolipidIBA
10. Proteins (Proteins, Gene)FDA Link

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Therapeutics
3. Intravenous Infusions
4. Slit Lamp
5. Enzyme Therapy