Identification of patients with late-onset Pompe disease (LOPD) based on muscle biopsy and clinical correlates: experience of a reference centre

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To review clinical and pathological findings in patients without specific diagnosis which finally were Pompe Disease (PD). A systematic review of clinical data and muscle biopsy reports were conducted. Cases without a specific biopsy diagnosis and with clinical criteria suggestive of PD were re-evaluated studying GAA activity in blood on filter paper, lymphocytes, muscle, and molecular studies, while cases with a PD diagnosis were reassessed. Between 1995 and 2013, 5409 muscle biopsies were performed.

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