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Kishnani, P.S., Beckemeyer, A.A. and Mendelsohn, N.J. (2012) The New Era of Pompe Disease: Advances in the Detection, Understanding of the Phenotypic Spectrum, Pathophysiology, and Management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160C, 1-7.
https://doi.org/10.1002/ajmg.c.31324

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