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Note: pseudodeficiency mutation has been associated with low GAA activity not related to Pompe disease [Kumamoto et al., 2009; Labrousse et al., 2010; Shigeto et al., 2011]. Data are presented as median with interquartile range. GAA activity, CK, LDH, AST, ALT, and LVMI were compared between patients with IOPD, suspected LOPD or pseudodeficiency by Kruskal�CWallis test. All statistical assessments were two-sided and evaluated at the 0.05 level of statistical significance. Statistical analyses were performed using SPSS 15.0 statistics software (SPSS Inc., Chicago, IL) and SigmaStat 3.1 (Jandel Scientific, San Rafael, CA). The screening algorithm and results of screening are shown in Figure 1. Among Alizarin 402,281 infants screened, 321 who screened positive for low GAA activity by DBS were referred to Taipei Veterans General Hospital. A total of seven patients were confirmed to have IOPD. One of these patients was referred to another hospital for diagnostic confirmation because her older sister, who also had IOPD, had received regular ERT at that hospital. Six infants with IOPD were diagnosed and received ERT at our hospital. Also identified were 20 cases of suspected LOPD and 294 cases of pseudodeficiency. The demographic characteristics of the six patients with IOPD are presented in Table I. Age at presentation ranged from 9 to 52 days. All were born to healthy, nonconsanguineous parents. All six patients were cross-reactive immunologic material (CRIM) positive and exhibited all of the following manifestations: general weakness and feeding SB203580 cost difficulty, extremely low GAA activity (��0.50??mol/L/hr), elevated CK (��250?U/L), and elevated LVMI (��80?g/m2). Muscle biopsy results for all six patients revealed significant involvement of muscle fibers. On H&E staining, most sections showed severe vacuolization of myocytes. Electron microscopy revealed accumulation of lysosomal glycogen in most cells. Myofibrils were completely replaced by cytoplasmic glycogen. Analysis of PAS-stained sections revealed variable amounts of glycogen in most skeletal myocytes. Biochemical and echocardiographic data (GAA activity, CK, LDH, AST, ALT, and LVMI) are summarized in Table II Fulvestrant mw and Figure 2. There were significant differences among the IOPD group and suspected LOPD and pseudodeficiency groups for all parameters (all P?