glycine has been researched along with Gaucher Disease in 4 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 (75.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ruskey, JA | 1 |
| Zhou, S | 1 |
| Santiago, R | 1 |
| Franche, LA | 1 |
| Alam, A | 1 |
| Roncière, L | 1 |
| Spiegelman, D | 1 |
| Fon, EA | 1 |
| Trempe, JF | 1 |
| Kalia, LV | 1 |
| Postuma, RB | 1 |
| Dupre, N | 1 |
| Rivard, GE | 1 |
| Assouline, S | 1 |
| Amato, D | 1 |
| Gan-Or, Z | 1 |
| Laubscher, KH | 1 |
| Glew, RH | 1 |
| Lee, RE | 1 |
| Okinaka, RT | 1 |
| Parenti, G | 1 |
| Filocamo, M | 1 |
| Titomanlio, L | 1 |
| Rizzolo, G | 1 |
| Silvestro, E | 1 |
| Perretti, A | 1 |
| Gatti, R | 1 |
| Andria, G | 1 |
| Choy, FY | 1 |
| Humphries, ML | 1 |
| Ben-Yoseph, Y | 1 |
4 other studies available for glycine and Gaucher Disease
| Article | Year |
|---|---|
The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.
Topics: Adolescent; Adult; Aged; Child, Preschool; Female; Founder Effect; Gaucher Disease; Glucosylceramida | 2018 |
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.
Topics: Base Sequence; Child, Preschool; DNA Mutational Analysis; DNA Primers; Electrophoresis, Polyacrylami | 1994 |
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
Topics: Adult; Arginine; Blotting, Western; Cells, Cultured; Female; Gaucher Disease; Glucosylceramidase; Gl | 1998 |
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
Topics: Chromosomes, Human, Pair 1; Gaucher Disease; Glycine; Humans; Mutation; Valine | 1998 |