adenine has been researched along with Glycogen Storage Disease Type II in 1 studies
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 |
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"Here, we report the derivation of Pompe disease-induced pluripotent stem cells (PomD-iPSCs) from two patients with different GAA mutations and their potential for pathogenesis modeling, drug testing and disease marker identification." | 1.37 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. ( Chen, CH; Chen, HF; Chen, PH; Chiang, SC; Chien, CL; Chien, YH; Chuang, CY; Ho, HN; Huang, HP; Hwu, WL; Kuo, HC; Li, LT; Stone, L, 2011) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (100.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Huang, HP | 1 |
Chen, PH | 1 |
Hwu, WL | 1 |
Chuang, CY | 1 |
Chien, YH | 1 |
Stone, L | 1 |
Chien, CL | 1 |
Li, LT | 1 |
Chiang, SC | 1 |
Chen, HF | 1 |
Ho, HN | 1 |
Chen, CH | 1 |
Kuo, HC | 1 |
1 other study available for adenine and Glycogen Storage Disease Type II
Article | Year |
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Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
Topics: Adenine; alpha-Glucosidases; Animals; Base Sequence; Biomarkers; Carnitine; Cell Differentiation; Dr | 2011 |