Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Mol Genet Metab. 2004 Mar;81(3):203-8. doi: 10.1016/j.ymgme.2003.11.011.
Mol Genet Metab. 2004.
PMID: 14972326