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Abetalipoproteinemia Due to a Novel Splicing Variant in in 3 Siblings by Caitlyn Vlasschaert MD, MSc, Adam D. McIntyre BSc, Lauren A. Thomson BSc, Brooke A. Kennedy BSc, Suzanne Ratko RD, Chitra Prasad MD, FRCPC, FCCMG, Robert A. Hegele MD, FRCPC, FACP
Published 2021Connect to this object online.
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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty
Published 2024Connect to this object online.
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