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Challenges in diagnosis and treatment of late-onset Pompe disease
Current Opinion in Neurology, 09/09/2011
Desnuelle C et al. – Diagnosis is easy to confirm through rapid and reliable biochemical tests with sampling of blood dots on filter paper. When started early, treatment would avoid serious irrevocable damage to cells. Increasing precocity of diagnosis and efficacy of treatments are the core challenges for the next few years.
