adenine has been researched along with Gaucher Disease in 2 studies
Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Seri, M | 1 |
| Filocamo, M | 1 |
| Corsolini, F | 1 |
| Bembi, B | 1 |
| Barbera, C | 1 |
| Gatti, R | 1 |
| Amaral, O | 1 |
| Pinto, E | 1 |
| Fortuna, M | 1 |
| Lacerda, L | 1 |
| Sá Miranda, MC | 1 |
2 other studies available for adenine and Gaucher Disease
| Article | Year |
|---|---|
A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
Topics: Adenine; Child, Preschool; Exons; Gaucher Disease; Genetic Testing; Glucosylceramidase; Guanine; Hum | 1995 |
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Topics: Adenine; Cytosine; Exons; Gaucher Disease; Glucosylceramidase; Humans; Point Mutation; Portugal; Pre | 1996 |