Hasil Pencarian - Ha Kyung Shin

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  1. 1
    A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

    A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency oleh Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry

    Diterbitkan 2019-07-01
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  2. 2
    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and... oleh Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr

    Diterbitkan 2020-11-01
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