Article
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
Molecular genetics and metabolism - 1 Nov 2013
Preisler Nicolai, Lukacs Zoltan, Vinge Lotte, Madsen Karen Lindhardt, Husu Edith, Hansen Regitze Sølling, Duno Morten, Andersen Henning, Laub Michael, Vissing John
Abstract excerpt
OBJECTIVE: Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease. METHODS: We used DBS (dried blood spots) to screen for...
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