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The ability of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited. There is a role for a screening dry blood spot tests in all patients presenting with a limb-girdle syndrome without a clear diagnosis
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This page is a summary of: Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, April 2016, Cambridge University Press,
DOI: 10.1017/cjn.2016.29.
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