serine has been researched along with Mucopolysaccharidosis III in 1 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Mucopolysaccharidosis III: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene and the resulting defective lysosomal degradation of the glycosaminoglycan heparan sulfate." | 1.35 | The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). ( Braulke, T; Gal, A; Kossow, K; Meyer, A; Mühlhausen, C; Muschol, N; Steglich, C; Ullrich, K, 2008) |
| 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 |
|---|---|
| Meyer, A | 1 |
| Kossow, K | 1 |
| Gal, A | 1 |
| Steglich, C | 1 |
| Mühlhausen, C | 1 |
| Ullrich, K | 1 |
| Braulke, T | 1 |
| Muschol, N | 1 |
1 other study available for serine and Mucopolysaccharidosis III
| Article | Year |
|---|---|
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Topics: Adolescent; Adult; Child; Child, Preschool; Disease Progression; Female; Genotype; Humans; Hydrolase | 2008 |