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

por Ducich, Nicole, Ah Mew, Nicholas, Bedoyan, Jirair K.
Publicado 2020

The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders()

por Wiggins, Jillian Lee, Peltier, Scott J., Bedoyan, Jirair K., Carrasco, Melisa, Welsh, Robert C., Martin, Donna M., Lord, Catherine, Monk, Christopher S.
Publicado 2012

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

por Tayeh, Marwan K., DeVaul, Janean, LeSueur, Kristin, Yang, Chen, Bedoyan, Jirair K., Thomas, Peedikayil, Hannibal, Mark C., Innis, Jeffrey W.
Publicado 2022

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

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

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

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

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

por Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Publicado 2019

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

por Bedoyan, Jirair K., Hage, Rosemary, Shin, Ha Kyung, Linard, Sharon, Ferren, Edwin, Ducich, Nicole, Wilson, Kirkland, Lehman, April, Schillaci, Lori‐Anne, Manickam, Kandamurugu, Mori, Mari, Bartholomew, Dennis, DeBrosse, Suzanne, Cohen, Bruce, Parikh, Sumit, Kerr, Douglas
Publicado 2020

A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease

por Zeiad, Rawah K H M, Ferren, Edwin C, Young, Denise D, De Lancy, Shanelle J, Dedousis, Demitrios, Schillaci, Lori-Anne, Redline, Raymond W, Saab, Shahrazad T, Crespo, Maricruz, Bhatti, Tricia R, Ackermann, Amanda M, Bedoyan, Jirair K, Wood, Jamie R
Publicado 2021

Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency

por van Rijt, Willemijn J., Van Hove, Johan L. K., Vaz, Frédéric M., Havinga, Rick, Allersma, Derk P., Zijp, Tanja R., Bedoyan, Jirair K., Heiner‐Fokkema, M. R., Reijngoud, Dirk‐Jan, Geraghty, Michael T., Wanders, Ronald J. A., Oosterveer, Maaike H., Derks, Terry G. J.
Publicado 2021

Clinical and biochemical characterization of four patients with mutations in ECHS1

por Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.
Publicado 2015

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy

por Raina, Rupesh, Bedoyan, Jirair K., Lichter-Konecki, Uta, Jouvet, Philippe, Picca, Stefano, Mew, Nicholas Ah, Machado, Marcel C., Chakraborty, Ronith, Vemuganti, Meghana, Grewal, Manpreet K., Bunchman, Timothy, Sethi, Sidharth Kumar, Krishnappa, Vinod, McCulloch, Mignon, Alhasan, Khalid, Bagga, Arvind, Basu, Rajit K., Schaefer, Franz, Filler, Guido, Warady, Bradley A.
Publicado 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

por Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio
Publicado 2020