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    Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant

    Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant 著者: Rairikar, Mugdha V., Case, Laura E., Bailey, Lauren A., Kazi, Zoheb B., Desai, Ankit K., Berrier, Kathryn L., Coats, Julie, Gandy, Rachel, Quinones, Rebecca, Kishnani, Priya S.

    出版事項 2017
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