aspartic acid has been researched along with Glycogen Storage Disease Type II in 4 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
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)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (50.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Chen, CP | 1 |
| Lin, SP | 1 |
| Tzen, CY | 1 |
| Tsai, FJ | 1 |
| Hwu, WL | 1 |
| Wang, W | 1 |
| Kroos, MA | 2 |
| Kirschner, J | 1 |
| Gellerich, FN | 1 |
| Hermans, MM | 2 |
| Van Der Ploeg, AT | 1 |
| Reuser, AJ | 2 |
| Korinthenberg, R | 1 |
| Lin, CY | 1 |
| Shieh, JJ | 1 |
| de Graaff, E | 1 |
| Wisselaar, HA | 1 |
| Willemsen, R | 1 |
| Oostra, BA | 1 |
4 other studies available for aspartic acid and Glycogen Storage Disease Type II
| Article | Year |
|---|---|
Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
Topics: Adult; alpha-Glucosidases; Aspartic Acid; Female; Glutamic Acid; Glycogen; Glycogen Storage Disease | 2004 |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Topics: alpha-Glucosidases; Amino Acid Substitution; Animals; Asparagine; Aspartic Acid; Blotting, Western; | 2004 |
Identification of a de Novo point mutation resulting in infantile form of Pompe's disease.
Topics: alpha-Glucosidases; Amino Acid Sequence; Aspartic Acid; Base Sequence; Codon; Glycogen Storage Disea | 1995 |
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
Topics: Adult; Alleles; alpha-Glucosidases; Aspartic Acid; Base Sequence; beta-N-Acetylhexosaminidases; Biol | 1993 |