Lara W Katzin et al.
Journal of clinical neuromuscular disease, 9(4), 421-431 (2008-06-06)
Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes for alpha-glucosidase. Presentation in infancy is associated with respiratory failure, cardiomyopathy, and severe muscle weakness. Juvenile- or adult-onset...
Toshiro Matsui et al.
Analytical sciences : the international journal of the Japan Society for Analytical Chemistry, 25(4), 559-562 (2009-04-11)
Alpha-glucosidase (AGH) from the small intestine of rat was immobilized onto a glutaraldehyde (GA) activated NH(2)-96 well microplate to establish a convenient and rapid AGH inhibition assay system. After AGH immobilization, remaining GA groups were blocked by beta-alanine to induce...
Blanca I Torres-Rodríguez et al.
Antonie van Leeuwenhoek, 101(2), 313-322 (2011-09-20)
The early steps of glycoprotein biosynthesis involve processing of the N-glycan core by endoplasmic reticulum α-glucosidases I and II which sequentially trim the outermost α1,2-linked and the two more internal α1,3-linked glucose units, respectively. We have demonstrated the presence of...
Shohei Shigeto et al.
Molecular genetics and metabolism, 103(1), 12-17 (2011-02-16)
The high frequency (3.3-3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G>A; 2065G>A] homozygote (AA homozygote), in Asian populations complicates newborn screening for Pompe disease (glycogen storage disease type II or acid maltase deficiency) on dried blood spots, since AA homozygotes have a...
A.Holzapfel-Pschorn et al.
Fresenius Journal of Analytical Chemistry, 327, 521-521 (1987)