Associated Papers
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Orphanet Journal of Rare Diseases, 2017
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Wan L et al.
Journal of Neurology, 2008
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