Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport by Taryn Diep, Gerald S. Lipshutz

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[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation by Isabel Day, Mikayla Tamboline, Lindsay Lueptow, Irina Zhuravka, Taryn Diep, Ilona Tkachyova, Shili Xu, Andreas Schulze, Gerald S. Lipshutz

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Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control by Taryn Diep, Wesley Zhou, Rachel E. Reyes, Matthew Nitzahn, Isabel L. Day, Georgios Makris, Lindsay Lueptow, Irina Zhuravka, Stuti Bakshi, Jon Gangoiti, Hyacinth Padaon, Yunfeng Li, Bruce A. Barshop, Johannes Haberle, Gerald S. Lipshutz

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A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system by Stuti Bakshi, Taryn Diep, Brandon J. Willis, Rachel Reyes, Grace F. Wu, Georgios Makris, Martin Poms, Isabel Day, Qin Sun, Irina Zhuravka, Lindsay Lueptow, Michelle Tang, Gareth A. Cromie, Aimée M. Dudley, Johannes Häberle, Gerald S. Lipshutz

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Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency by Zahra Nasseri Moghaddam, Emily K. Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham, Beth H. Tiller, Steven A. Baker, Deborah A. Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P. Coller, Ton J. DeGrauw, Vicky Hall, Gerald S. Lipshutz, Nicola Longo, Saadet Mercimek-Andrews, Judith S. Miller, Marzia Pasquali, Gajja S. Salomons, Andreas Schulze, Celine P. Wheaton, Kayla F. Williams, Sarah P. Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stöckler-Ipsiroglu, Heidi Wallis

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