adenine 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The importance of angiokeratoma corporis diffusum as the clue to the diagnosis of beta-mannosidosis and other lysosomal storage diseases is emphasized." | 2.44 | Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. ( Abramowitz, Y; Bargal, R; Doviner, V; Ingber, A; Molho-Pessach, V; Ne'eman, Z; Raas-Rothschild, A; Zeigler, M; Zlotogorski, A, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Molho-Pessach, V | 1 |
| Bargal, R | 1 |
| Abramowitz, Y | 1 |
| Doviner, V | 1 |
| Ingber, A | 1 |
| Raas-Rothschild, A | 1 |
| Ne'eman, Z | 1 |
| Zeigler, M | 1 |
| Zlotogorski, A | 1 |
1 review available for adenine and Fabry Disease
| Article | Year |
|---|---|
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
Topics: Adenine; Adult; Arabs; Base Sequence; beta-Mannosidase; beta-Mannosidosis; Codon, Nonsense; Codon, T | 2007 |