4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside 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) [MeSH]
| 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 | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bergsma, AJ; Broeders, M; de Faria, DOS; Hoogeveen-Westerveld, M; Niño, MY; Pijnappel, WWMP; van den Hout, HJM; van der Beek, NAME; van der Ploeg, AT; Verheijen, FW; Wijgerde, M | 1 |
1 other study(ies) available for 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside and Glycogen Storage Disease Type II
| Article | Year |
|---|---|
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Topics: alpha-Glucosidases; Cells, Cultured; Clinical Enzyme Tests; Dried Blood Spot Testing; Fibroblasts; Genetic Testing; Glycogen Storage Disease Type II; Humans; Hymecromone; Leukocytes; Mutation | 2021 |