carnitine has been researched along with Fabry Disease in 1 studies
Fabry 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.
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (100.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Saini-Chohan, HK | 1 |
Mitchell, RW | 1 |
Vaz, FM | 1 |
Zelinski, T | 1 |
Hatch, GM | 1 |
1 review available for carnitine and Fabry Disease
Article | Year |
---|---|
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.
Topics: Adult; Animals; Cardiolipins; Cardiomyopathies; Carnitine; Child, Preschool; Desmin; Dystrophin; Fab | 2012 |