Not logged in Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin Lasio, Laura Duque; Leshinski, Angela C.; Ducich, Nicole H.; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B.; Hainline, Bryan E.; Basinger, Alice A.; Wilson, William G.; Diaz, George A.; Erbe, Richard W.; Koeberl, Dwight D.; Vockley, Jerry; Bedoyan, Jirair K. Share Save
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing Koppes, Erik A.; Redel, Bethany K.; Johnson, Marie A.; Skvorak, Kristen J.; Ghaloul-Gonzalez, Lina; Yates, Megan E.; Lewis, Dale W.; Gollin, Susanne M.; Wu, Yijen L.; Christ, Shawn E.; Yerle, Martine; Leshinski, Angela; Spate, Lee D.; Benne, Joshua A.; Murphy, Stephanie L.; Samuel, Melissa S.; Walters, Eric M.; Hansen, Sarah A.; Wells, Kevin D.; Lichter-Konecki, Uta; Wagner, Robert A.; Newsome, Joseph T.; Dobrowolski, Steven F.; Vockley, Jerry; Prather, Randall S.; Nicholls, Robert D. Share Save
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