The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification

by Nicole Ducich, Nicholas Ah Mew, Jirair K. Bedoyan
Published 2020-06-01

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

by William B. Hannah, Katherine J. Dempsey, Lori-Anne P. Schillaci, Michael Zacharias, Shawn E. McCandless, Anthony Wynshaw-Boris, Laura L. Konczal, Jirair K. Bedoyan
Published 2019-12-01

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

by Kristin K. Deeb, Jirair K. Bedoyan, Raymond Wang, Leighann Sremba, Molly C. Schroeder, George J. Grahame, Monica Boyer, Shawn E. McCandless, Douglas S. Kerr, Shulin Zhang
Published 2014-01-01

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

by 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
Published 2019-07-01

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and...

by 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
Published 2020-11-01