serine has been researched along with Carbohydrate-Deficient Glycoprotein Syndrome 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| " A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase." | 3.71 | A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. ( Freeze, HH; Grunewald, S; Kjaergaard, S; Martens, K; Matthijs, G; Schollen, E; Schwartz, M; Westphal, V, 2002) |
| 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 |
|---|---|
| Westphal, V | 1 |
| Kjaergaard, S | 1 |
| Schollen, E | 1 |
| Martens, K | 1 |
| Grunewald, S | 1 |
| Schwartz, M | 1 |
| Matthijs, G | 1 |
| Freeze, HH | 1 |
1 other study available for serine and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Topics: Amino Acid Substitution; Cohort Studies; Congenital Disorders of Glycosylation; Exons; Galactosyltra | 2002 |