The autosomal recessive Pompe disease, which is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), manifests in the very severe classic-infantile and in milder course late-onset forms (LOPD). Since an effective Enzyme Replacement Therapy is available, a cheap, rapid, sensitive and specific screening test is crucial to early identify homozygous affected and heterozygous carriers. Aim of this study is to verify sensitivity and specificity of the quantitative assessment of PAS-positive granules in lymphocytes to recognize homozygous and heterozygous GAA mutated individuals.

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