Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report by Montaha Almudhry, Montaha Almudhry, Chitra Prasad, Chitra Prasad, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Asuri N. Prasad, Asuri N. Prasad

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Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study by Jessica Tao, C. Anthony Rupar, Michael R. Miller, Suzanne Ratko, Chitra Prasad

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Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p by Melab Musabi, Ayman Saker, Jessi Baer, Peter Wang, Anahita Mohseni Meybodi, Chitra Prasad, Soume Bhattacharya

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Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report by Julia Macintosh, Julia Macintosh, Stefanie Perrier, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Luan T. Tran, Kether Guerrero, Kether Guerrero, Chitra Prasad, Chitra Prasad, Chitra Prasad, Asuri N. Prasad, Asuri N. Prasad, Tomi Pastinen, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Benoit Coulombe, Benoit Coulombe, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

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Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series by Montaha Almudhry, Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, Maryam Nabavi Nouri, Maryam Nabavi Nouri, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Chitra Prasad, Chitra Prasad, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad, Asuri Narayan Prasad, Asuri Narayan Prasad

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Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism by Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N. Prasad, Akshya Vasudev, Andrew Mantulak, Beth K. Potter, Chitra Prasad

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A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report by Montaha Almudhry, Montaha Almudhry, Asuri N. Prasad, Asuri N. Prasad, Asuri N. Prasad, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Mary E. Jenkins, Chitra Prasad, Chitra Prasad

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Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple by Talib Al Harthy, Samantha Colaiacovo, Robert J. Gratton, Kevin Coughlin, Victoria Mok Siu, Chitra Prasad, Charles Rupar, Maha Saleh

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High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses by Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews

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De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures by Ping Yang, Ping Yang, Robert Broadbent, Robert Broadbent, Chitra Prasad, Simon Levin, Sharan Goobie, Joan H. Knoll, Joan H. Knoll, Asuri N. Prasad

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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

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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes by Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic

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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada by Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

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P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis by Andrea Chow, Guylaine D'Amours, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Zobaida Al-Baldawi, Julie Paradis, Jamie Brehaut, Alicia Chan, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Ian Graham, Cheryl Rockman-Greenberg, Jeremy Grimshaw, Robin Hayeems, Michal Inbar-Feigenberg, Shailly Jain-Ghai, Sara Khangura, Jennifer MacKenzie, Nathalie Major, John Mitchell, Stuart Nicholls, Amy Pender, Murray Potter, Chitra Prasad, Natalya Karp, Andreas Schulze, Komudi Siriwardena, Kathy Speechley, Sylvia Stockler, Yannis Trakadis, Clara van Karnebeek, Jagdeep Walia, Kumanan Wilson, Brenda Wilson, Andrea Yu, Beth Potter

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Family‐centred care interventions for children with chronic conditions: A scoping review by Andrea J. Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara Khangura, Jennifer J. MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stockler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara Van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter

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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review by Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R. Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex MacKenzie, Jennifer MacKenzie, Bruno Maranda, John J. Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K. Potter, Canadian Inherited Metabolic Diseases Research Network

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Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study by Monica Taljaard, Sarah Dyack, Jeremy M Grimshaw, Andreas Schulze, Ian D Graham, Jamie Brehaut, Kumanan Wilson, Pranesh Chakraborty, Nathalie Major, Eyal Cohen, Yannis Trakadis, Clara van Karnebeek, Maureen Smith, Kathy Speechley, Komudi Siriwardena, Robin Z Hayeems, Sharan Goobie, Beth K Potter, Jagdeep S Walia, Jennifer J MacKenzie, Chitra Prasad, Stuart G Nicholls, Ann Jolly, Brenda J Wilson, Lisa A Prosser, Andrea J Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordan, Nicole Pallone, Zobaida Al-Baldawi, Alicia Chan, Lisa Jane Gillis, Cheryl R Greenberg, Shailly Jain-Ghai, Sara Khangura, John J Mitchell, Amy Pender, Murray Potter, Rebecca Sparkes, Sylvia Stockler, Mari Teitelbaum

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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

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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Me... by Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, 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, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

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