P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum by Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty

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Parental Preferences for Expanded Newborn Screening: What Are the Limits? by Nicole S. Y. Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty, Robin Z. Hayeems

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Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research by Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter, In collaboration with the Canadian Inherited Metabolic Diseases Research Network

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A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability by Alana Fairfax, Jamie Brehaut, Ian Colman, Lindsey Sikora, Alessia Kazakova, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network

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Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment by Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky

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Metabolic profiles derived from residual blood spot samples: A longitudinal analysis [version 1; referees: 2 approved] by Malia S.Q. Murphy, Steven Hawken, Wei Cheng, Lindsay A. Wilson, Monica Lamoureux, Matthew Henderson, Beth Potter, Julian Little, Pranesh Chakraborty, Kumanan Wilson

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P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening by Stephanie Luca, Katharine Fooks, Elise Poole, Amanda Pichini, Joanna Ziff, Katrina Stone, Bowen Xiao, Salma Shickh, David Bick, Pranesh Chakraborty, Wendy Ungar, Robin Hayeems

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Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry by Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasouki, Pranesh Chakraborty, Fatma Aljasmi, Osama Y. Al-Dirbashi

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TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins by Thet Fatica, Turaya Naas, Urszula Liwak, Hannah Slaa, Maryam Souaid, Brianna Frangione, Ribal Kattini, Antoine Gaudreau-Lapierre, Laura Trinkle-Mulcahy, Pranesh Chakraborty, Martin Holcik

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Adverse events following 12 and 18 month vaccinations: a population-based, self-controlled case series analysis. by Kumanan Wilson, Steven Hawken, Jeffrey C Kwong, Shelley Deeks, Natasha S Crowcroft, Carl Van Walraven, Beth K Potter, Pranesh Chakraborty, Jennifer Keelan, Michael Pluscauskas, Doug Manuel

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Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children by Shelley M. Vanderhout, Maureen Smith, Nicole Pallone, Kylie Tingley, Michael Pugliese, Pranesh Chakraborty, Sylvia Stockler, Martin Offringa, Nancy Butcher, Stuart G. Nicholls, Beth K. Potter

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Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings by Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little, Kumanan Wilson

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Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening by Sara D. Khangura, Beth K. Potter, Christine Davies, Robin Ducharme, A. Brianne Bota, Steven Hawken, Kumanan Wilson, Maria D. Karaceper, Robert J. Klaassen, Julian Little, Ewurabena Simpson, Pranesh Chakraborty

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Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness o... by Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network

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T-cell receptor excision circle levels and safety of paediatric immunization: A population-based self-controlled case series analysis by Kumanan Wilson, Daniel Rodriguez Duque, Malia S.Q Murphy, Steven Hawken, Anne Pham-Huy, Jeffrey Kwong, Shelley L. Deeks, Beth K. Potter, Natasha S. Crowcroft, Dennis E. Bulman, Pranesh Chakraborty, Julian Little

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Real world external validation of metabolic gestational age assessment in Kenya. by Steven Hawken, Victoria Ward, A Brianne Bota, Monica Lamoureux, Robin Ducharme, Lindsay A Wilson, Nancy Otieno, Stephen Munga, Bryan O Nyawanda, Raphael Atito, David K Stevenson, Pranesh Chakraborty, Gary L Darmstadt, Kumanan Wilson

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Real world external validation of metabolic gestational age assessment in Kenya by Steven Hawken, Victoria Ward, A. Brianne Bota, Monica Lamoureux, Robin Ducharme, Lindsay A. Wilson, Nancy Otieno, Stephen Munga, Bryan O. Nyawanda, Raphael Atito, David K. Stevenson, Pranesh Chakraborty, Gary L. Darmstadt, Kumanan Wilson

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Validation of gestational age determination from ultrasound or a metabolic gestational age algorithm using exact date of conception in a cohort of newborns conceived using assisted... by Steven Hawken, PhD, Brieanne Olibris, PhD, Robin Ducharme, MSc, A. Brianne Bota, PhD, Jeffrey C. Murray, MD, Beth K. Potter, PhD, Mark Walker, MD, Pranesh Chakraborty, MD, Kumanan Wilson, MD

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External validation of postnatal gestational age estimation using newborn metabolic profiles in Matlab, Bangladesh by Malia SQ Murphy, Steven Hawken, Wei Cheng, Lindsay A Wilson, Monica Lamoureux, Matthew Henderson, Jesmin Pervin, Azad Chowdhury, Courtney Gravett, Eve Lackritz, Beth K Potter, Mark Walker, Julian Little, Anisur Rahman, Pranesh Chakraborty, Kumanan Wilson

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Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices by Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

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