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Palabras clave – provistas por la editorial

Pompe disease; newborn screening; diagnosis; infantile onset Pompe disease; late onset Pompe disease; patient perspective; n/a; California; follow-up; pseudodeficiency; late-onset; infantile-onset; presymptomatic; c.-32-13T& gt; G; infantile-onset Pompe disease; GAA sequencing; immune modulation therapy; enzyme replacement therapy; cross-reactive immunologic material; genotype-phenotype correlation; treatment and follow-up; lysosomal storage diseases; variant cut-off; next generation sequencing; dried blood spots; new disorders implementation; acid α-glucosidase; alpha glucosidase; Pompe disease diagnostics testing