Lysosomal alpha-glucosidase
Definition:
References:
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[1]. M M Hermans, et al. Human lysosomal alpha-glucosidase. Characterization of the catalytic site. J Biol Chem. 1991 Jul 25;266(21):13507-12. [Content Brief]
[2]. Véronique Roig-Zamboni, et al. Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease. Nat Commun. 2017 Oct 24;8(1):1111. [Content Brief]
[3]. M G Pittis, et al. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. Hum Mutat. 2008 Jun;29(6):E27-36. [Content Brief]
[4]. C F Boerkoel, et al. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet. 1995 Apr;56(4):887-97. [Content Brief]
[5]. Monique M P Hermans, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat. 2004 Jan;23(1):47-56. [Content Brief]
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