Alpha 1,4 glucosidase deficiency

Pauly, D. F., Johns, D. C., Matelis, L. A., Lawrence, J. H., Byrne, B. J. and Kessler, P. D. (1998). Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle. Gene Ther. 5, 473-480. 

Raben, N., Plotz, P. and Byrne, B. J. (2002). Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr. Mol. Med. 2, 145-166. 

Hers HG. Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe s Disease). Biochem. J. 1963 86 11. 

Bijvoet, A. G., Kroos, M. A., Pieper, F. R., Van, d., V, De Boer, H. A., Van der Ploeg, A. T., Verbeet, M. P. and Reuser, A. J. (1998). Recombinant human acid alpha-glucosidase High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum. Mol. Genet. 7, 1815-1824. 

Pauly, D. F., Fraites, T. J., Toma, C., Bayes, H. S., Huie, M. L., Hirschhorn, R., Plotz, P. H., Raben, N., Kessler, P. D. and Byrne, B. J. (2001). Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease. Hum. Gene Ther. 12(5), 527-538. 

Zaretsky, J. Z., Candotti, F., Boerkoel, C., Adams, E. M., Yewdell, J. W., Blaese, R. M. and Plotz, P. H. (1997). Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion. Hum. Gene Ther. 8, 1555-1563. 

Note Pompe disease is an autosomal recessive muscular disorder caused by the deficiency or lack of the enzyme acid alpha-glucosidase, which is essential for normal muscle development and function. The... 

Bijvoet AG, Kroos MA, Pieper FR, et al. Recombinant human acid alpha-glucosidase high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum. Mol. Genet., 1998 7(11) 1815-1824. 

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