Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly by Suzanna E. L. Temple, Rani Sachdev, Carolyn Ellaway

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P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers by Ashley Hertzog, Adviye Ayper Tolun, Carolyn Ellaway, Wendy Gold, Gladys Ho

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Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays by Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W. T. Chung, Carolyn Ellaway

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Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient by Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou

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Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia by Noha Elserafy, Sue Thompson, Troy Dalkeith, Michael Stormon, Gordon Thomas, Albert Shun, Janine Sawyer, Shanti Balasubramanian, Kaustuv Bhattacharya, Nadia Badawi, Carolyn Ellaway

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Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients by Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

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Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study by Kaustuv Bhattacharya, Shanti Balasubramaniam, Kevin Murray, Heidi Peters, David Ketteridge, Anita Inwood, Joy Lee, Carolyn Ellaway, Penny Owens, Melanie Wong, Christine Ly, Jim McGill

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P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis by Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon

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Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. by Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M Ward, Craig Munns, Kathleen Motil, Daniel Tarquinio, Jay R Shapiro, Torkel Brismar, Bruria Ben-Zeev, Anne-Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane Lane, Gunilla Larsson, Meir Lotan, Alan Percy, Mercedes Pineda, Steven Skinner, Birgit Syhler, Sue Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs

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Understanding the Early Presentation of Mucopolysaccharidoses Disorders by Lorne Clarke MD, Carolyn Ellaway MBBS, PhD, Helen E. Foster MD, MBBS, Roberto Giugliani MD, PhD, Cyril Goizet MD, PhD, Sarah Goring MSc, Sara Hawley MSc, Elaina Jurecki MS, RD, Zaeem Khan MPH, BSc, Christina Lampe MD, Ken Martin MD, Suzanne McMullen MHA, BSc, John J. Mitchell MD, Fathima Mubarack MSc, MHA, H. Serap Sivri MD, Martha Solano Villarreal MD, PhD, Fiona J. Stewart MB, BS, Anna Tylki-Szymanska MD, PhD, Klane White MD, MSc, Frits Wijburg MD, PhD

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