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adenine and Glycogen Storage Disease Type II

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)

Research Excerpts

ExcerptRelevanceReference
"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."1.37Human 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)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Huang, HP1
Chen, PH1
Hwu, WL1
Chuang, CY1
Chien, YH1
Stone, L1
Chien, CL1
Li, LT1
Chiang, SC1
Chen, HF1
Ho, HN1
Chen, CH1
Kuo, HC1

Other Studies

1 other study available for adenine and Glycogen Storage Disease Type II

ArticleYear
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
    Human molecular genetics, 2011, Dec-15, Volume: 20, Issue:24

    Topics: Adenine; alpha-Glucosidases; Animals; Base Sequence; Biomarkers; Carnitine; Cell Differentiation; Dr

2011