serine has been researched along with Glycogen Storage Disease Type II 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.
Glycogen Storage Disease Type II: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Glycogen storage disease type II (GSD II) is an autosomal recessive disorder resulting from a deficiency of acid alpha-glucosidase (GAA, or acid maltase)." | 1.33 | Two new missense mutations of GAA in late onset glycogen storage disease type II. ( Kim, CM; Kim, DS; Lee, CH; Park, KH; Park, YE, 2006) |
| 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 |
|---|---|
| Park, YE | 1 |
| Park, KH | 1 |
| Lee, CH | 1 |
| Kim, CM | 1 |
| Kim, DS | 1 |
1 other study available for serine and Glycogen Storage Disease Type II
| Article | Year |
|---|---|
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Topics: Adult; alpha-Glucosidases; Child; DNA Mutational Analysis; Family Health; Female; Glycogen Storage D | 2006 |