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1 used by a deficiency of the lysosomal enzyme acid alpha-glucosidase.
2 imum at pH 4.3, classifying the enzyme as an acid alpha-glucosidase.
3 y of the glycogen-degrading lysosomal enzyme acid-alpha glucosidase.
4 ic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal e
5 e GAA gene, resulting in deficient lysosomal acid-alpha-glucosidase activity in patients, and a progr
6 The physiological relevance of acid maltase (acid alpha-glucosidase, an enzyme that degrades lysosoma
8 ed by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal
9 ed a plasmid containing a 5'-shortened human acid alpha-glucosidase cDNA driven by the cytomegaloviru
10 disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by e
11 CI-MPR-mediated uptake of recombinant human acid-alpha-glucosidase during ERT in mice with Pompe dis
12 isingly, we also found that, unlike mammals, acid alpha-glucosidase from zebrafish and medaka does no
13 ding the glycogen-degrading lysosomal enzyme acid alpha -glucosidase (GAA) (also called "acid maltase
14 cogen storage disease caused by mutations in acid alpha glucosidase (GAA), results in pathological ac
15 oss of lysosomal glycogen-hydrolyzing enzyme acid alpha-glucosidase (GAA) activity, which results in
17 ffects primarily the liver and kidney, while acid alpha-glucosidase (GAA) deficiency in GSD II causes
20 transported to and degraded in lysosomes by acid alpha-glucosidase (GAA) in mammals, but it is uncle
25 ation of a modified Ad vector encoding human acid alpha-glucosidase (GAA) resulted in efficient hepat
26 e generated by treating the lysosomal enzyme acid alpha-glucosidase (GAA) with recombinant GlcNAc-pho
27 in a competitive manner the human lysosomal acid alpha-glucosidase (GAA), ER alpha-glucosidases, and
28 ssive disorder caused by deficient lysosomal acid alpha-glucosidase (GAA), is characterized by accumu
29 cular disorder, is caused by a deficiency of acid alpha-glucosidase (GAA), leading to an accumulation
30 e type II (GSDII), caused by a deficiency in acid alpha-glucosidase (GAA), leads to lysosomal accumul
31 ase (IOPD), caused by mutations in lysosomal acid alpha-glucosidase (Gaa), manifests rapidly progress
32 y and cardiomyopathy caused by deficiency of acid alpha-glucosidase (GAA), skeletal muscle seems an o
33 ting system to improve lysosomal delivery of acid alpha-glucosidase (GAA), the enzyme deficient in pa
34 action of this class of compounds with human acid alpha-glucosidase (GAA), the genetically defective
35 ity is directly related to the deficiency of acid alpha-glucosidase (GAA), which degrades glycogen in
36 has resisted enzyme replacement therapy with acid alpha-glucosidase (GAA), which has been attributed
40 metabolic disorder characterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lys
42 rome), mice homozygous for disruption of the acid alpha-glucosidase gene (6(neo)/6(neo)) lack enzyme
43 g the expression and regulation of the human acid alpha-glucosidase gene as well as other lysosomal e
44 have previously demonstrated that the human acid alpha-glucosidase gene expression is regulated by a
47 (Delta6/Delta6), like the recently published acid alpha-glucosidase knockout with disruption of exon
48 genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular d
49 ed levels of the full-length GAA transcript, acid-alpha-glucosidase protein, and enzyme activity in a
50 t relatively high doses of recombinant human acid alpha-glucosidase (rhGAA) may be required to reduce
51 tion system now exists for recombinant human acid alpha-glucosidase targeted to heart and capable of
53 ed these residues were not acquired on human acid alpha-glucosidase when expressed in zebrafish embry
54 man lysosomal enzymes alpha-l-iduronidase or acid alpha-glucosidase with the receptor-associated prot