cytosine has been researched along with Sandhoff Disease in 1 studies
Sandhoff Disease: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Sandhoff disease is caused by abnormalities in HEXB gene encoding the beta-subunit of beta-hexosaminidase." | 1.30 | Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease. ( Anastasiadou, V; Christopoulos, G; Drousiotou, A; Furihata, K; Hara, Y; Ioannou, P; Stylianidou, G; Ueno, I, 1999) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (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 |
|---|---|
| Furihata, K | 1 |
| Drousiotou, A | 1 |
| Hara, Y | 1 |
| Christopoulos, G | 1 |
| Stylianidou, G | 1 |
| Anastasiadou, V | 1 |
| Ueno, I | 1 |
| Ioannou, P | 1 |
1 other study available for cytosine and Sandhoff Disease
| Article | Year |
|---|---|
Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
Topics: Bacterial Proteins; beta-Hexosaminidase beta Chain; beta-N-Acetylhexosaminidases; Child; Cyprus; Cyt | 1999 |