Page last updated: 2024-10-17

chlorine and Glycogen Storage Disease Type II

chlorine has been researched along with Glycogen Storage Disease Type II in 2 studies

chloride : A halide anion formed when chlorine picks up an electron to form an an anion.

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
"Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA)."1.48Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. ( Boomaars, B; Cardone, M; de Jong, B; In 't Groen, SLM; Parenti, G; Pijnappel, WWMP; Schaaf, GJ; Tarallo, A; van der Ploeg, AT; van Gestel, TJM, 2018)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Schaaf, GJ1
van Gestel, TJM1
In 't Groen, SLM1
de Jong, B1
Boomaars, B1
Tarallo, A1
Cardone, M1
Parenti, G1
van der Ploeg, AT1
Pijnappel, WWMP1
Lin, CY1

Other Studies

2 other studies available for chlorine and Glycogen Storage Disease Type II

ArticleYear
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.
    Acta neuropathologica communications, 2018, 11-07, Volume: 6, Issue:1

    Topics: Age Factors; alpha-Glucosidases; Animals; Barium Compounds; Cardiotoxins; Chlorides; Disease Models,

2018
Enhanced enzyme activity after incubation with zinc can be used to distinguish heterozygotes of Pompe's disease.
    Pediatric research, 1988, Volume: 23, Issue:3

    Topics: alpha-Glucosidases; Chlorides; Clinical Enzyme Tests; Genetic Carrier Screening; Glycogen Storage Di

1988