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Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 53-62

Oxford University Press

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Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

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Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2618-2618

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Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

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Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 684-696

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Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

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Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 570-577

John Wiley & Sons Inc

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