Associated Papers
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Bobillo Lobato J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Where do we stand in enzyme replacement therapy in Pompe's disease?
van der Ploeg AT
Neuromuscular Disorders : Nmd, 2010
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