cytosine has been researched along with Gaucher Disease in 3 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 | 3 (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 |
|---|---|
| Beutler, E | 1 |
| Demina, A | 1 |
| Gelbart, T | 1 |
| Amaral, O | 1 |
| Pinto, E | 1 |
| Fortuna, M | 1 |
| Lacerda, L | 1 |
| Sá Miranda, MC | 1 |
| Dahl, N | 1 |
| Wadelius, C | 1 |
| Annerén, G | 1 |
| Gustavson, KH | 1 |
3 other studies available for cytosine and Gaucher Disease
| Article | Year |
|---|---|
Glucocerebrosidase mutations in Gaucher disease.
Topics: Adult; Base Sequence; Child; Cytosine; Exons; Female; Gaucher Disease; Genetics, Population; Glucosy | 1994 |
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 |
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
Topics: Base Sequence; Chorionic Villi Sampling; Codon; Cytosine; DNA Mutational Analysis; Female; Fetal Dis | 1992 |