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ArticlesPeer ReviewedFull Text
Family‐centred care interventions for children with chronic conditions: A scoping review
Author / Creator:Chow, Andrea J. ; Saad, Ammar ; Al‐Baldawi, Zobaida ; Iverson, Ryan ; Skidmore, Becky ; Jordan, Isabel ; Pallone, Nicole ; Smith, Maureen ; Chakraborty, Pranesh ; Brehaut, Jamie ; Cohen, Eyal ; Dyack, Sarah ; Gillis, Jane ; Goobie, Sharan ; Greenberg, Cheryl R. ; Hayeems, Robin ; Hutton, Brian ; Inbar‐Feigenberg, Michal ; Jain‐Ghai, Shailly ; Khangura, Sara ; MacKenzie, Jennifer J. ; Mitchell, John J. ; Moazin, Zeinab ; Nicholls, Stuart G. ; Pender, Amy ; Prasad, Chitra ; Schulze, Andreas ; Siriwardena, Komudi ; Sparkes, Rebecca N. ; Speechley, Kathy N. ; Stockler, Sylvia ; Taljaard, Monica ; Teitelbaum, Mari ; Trakadis, Yannis ; Van Karnebeek, Clara ; Walia, Jagdeep S. ; Wilson, Kumanan ; Potter, Beth K.
Publisher:England: John Wiley & Sons, Inc
Journal title:Health expectations : an international journal of public participation in health care and health policy, 2024-02, Vol.27 (1), p.e13897-n/a
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Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort match...
Author / Creator:Jain‐Ghai, Shailly ; Joffe, Ari R. ; Bond, Gwen Y. ; Siriwardena, Komudi ; Chan, Alicia ; Yap, Jason Y. K. ; Hajihosseini, Morteza ; Dinu, Irina A. ; Acton, Bryan V. ; Robertson, Charlene M. T.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-03, Vol.52 (1), p.43-54
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Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome
Author / Creator:Ambrose, Anastasia ; Bahl, Shalini ; Sharma, Saloni ; Zhang, Dan ; Hung, Clara ; Jain-Ghai, Shailly ; Chan, Alicia ; Mercimek-Andrews, Saadet
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.424-13, Article 424
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Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission
Author / Creator:Anderson, Dustin ; Jain-Ghai, Shailly ; Sligl, Wendy I.
Publisher:Cham: Springer International Publishing
Journal title:Canadian journal of anesthesia, 2020-08, Vol.67 (8), p.1094-1096
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Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic
Author / Creator:Ambrose, Anastasia ; Sheehan, Melissa ; Bahl, Shalini ; Athey, Taryn ; Ghai-Jain, Shailly ; Chan, Alicia ; Mercimek-Andrews, Saadet
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-360, Article 360
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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Author / Creator:Pugliese, Michael ; Tingley, Kylie ; Chow, Andrea ; Pallone, Nicole ; Smith, Maureen ; Rahman, Alvi ; Chakraborty, Pranesh ; Geraghty, Michael T. ; Irwin, Julie ; Tessier, Laure ; Nicholls, Stuart G. ; Offringa, Martin ; Butcher, Nancy J. ; Iverson, Ryan ; Clifford, Tammy J. ; Stockler, Sylvia ; Hutton, Brian ; Paik, Karen ; Tao, Jessica ; Skidmore, Becky ; Coyle, Doug ; Duddy, Kathleen ; Dyack, Sarah ; Greenberg, Cheryl R. ; Ghai, Shailly Jain ; Karp, Natalya ; Korngut, Lawrence ; Kronick, Jonathan ; MacKenzie, Alex ; MacKenzie, Jennifer ; Maranda, Bruno ; Mitchell, John J. ; Potter, Murray ; Prasad, Chitra ; Schulze, Andreas ; Sparkes, Rebecca ; Taljaard, Monica ; Trakadis, Yannis ; Walia, Jagdeep ; Potter, Beth K.
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.12-12, Article 12
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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 Metabolic Diseases Res...
Author / Creator:Tingley, Kylie ; Lamoureux, Monica ; Pugliese, Michael ; Geraghty, Michael T. ; Kronick, Jonathan B. ; Potter, Beth K. ; Coyle, Doug ; Wilson, Kumanan ; Kowalski, Michael ; Austin, Valerie ; Brunel-Guitton, Catherine ; Buhas, Daniela ; Chan, Alicia K. J. ; Dyack, Sarah ; Feigenbaum, Annette ; Giezen, Alette ; Goobie, Sharan ; Greenberg, Cheryl R. ; Ghai, Shailly Jain ; Inbar-Feigenberg, Michal ; Karp, Natalya ; Kozenko, Mariya ; Langley, Erica ; Lines, Matthew ; Little, Julian ; MacKenzie, Jennifer ; Maranda, Bruno ; Mercimek-Andrews, Saadet ; Mohan, Connie ; Mhanni, Aizeddin ; Mitchell, Grant ; Mitchell, John J. ; Nagy, Laura ; Napier, Melanie ; Pender, Amy ; Potter, Murray ; Prasad, Chitra ; Ratko, Suzanne ; Salvarinova, Ramona ; Schulze, Andreas ; Siriwardena, Komudi ; Sondheimer, Neal ; Sparkes, Rebecca ; Stockler-Ipsiroglu, Sylvia ; Trakadis, Yannis ; Turner, Lesley ; Van Karnebeek, Clara ; Vallance, Hilary ; Vandersteen, Anthony ; Walia, Jagdeep ; Wilson, Ashley ; Wilson, Brenda J. ; Yu, Andrea C. ; Yuskiv, Nataliya ; Chakraborty, Pranesh
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.89-89, Article 89
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Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Author / Creator:Chow, Andrea J ; Iverson, Ryan ; Lamoureux, Monica ; Tingley, Kylie ; Jordan, Isabel ; Pallone, Nicole ; Smith, Maureen ; Al-Baldawi, Zobaida ; Chakraborty, Pranesh ; Brehaut, Jamie ; Chan, Alicia ; Cohen, Eyal ; Dyack, Sarah ; Gillis, Lisa Jane ; Goobie, Sharan ; Graham, Ian D ; Greenberg, Cheryl R ; Grimshaw, Jeremy M ; Hayeems, Robin Z ; Jain-Ghai, Shailly ; Jolly, Ann ; Khangura, Sara ; MacKenzie, Jennifer J ; Major, Nathalie ; Mitchell, John J ; Nicholls, Stuart G ; Pender, Amy ; Potter, Murray ; Prasad, Chitra ; Prosser, Lisa A ; Schulze, Andreas ; Siriwardena, Komudi ; Sparkes, Rebecca ; Speechley, Kathy ; Stockler, Sylvia ; Taljaard, Monica ; Teitelbaum, Mari ; Trakadis, Yannis ; van Karnebeek, Clara ; Walia, Jagdeep S ; Wilson, Brenda J ; Wilson, Kumanan ; Potter, Beth K
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2022-02, Vol.12 (2), p.e055664-e055664
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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Author / Creator:Siddiq, Shabnaz ; Wilson, Brenda J. ; Graham, Ian D. ; Lamoureux, Monica ; Khangura, Sara D. ; Tingley, Kylie ; Tessier, Laure ; Chakraborty, Pranesh ; Coyle, Doug ; Dyack, Sarah ; Gillis, Jane ; Greenberg, Cheryl ; Hayeems, Robin Z. ; Jain-Ghai, Shailly ; Kronick, Jonathan B. ; Laberge, Anne-Marie ; Little, Julian ; Mitchell, John J. ; Prasad, Chitra ; Siriwardena, Komudi ; Sparkes, Rebecca ; Speechley, Kathy N. ; Stockler, Sylvia ; Trakadis, Yannis ; Wafa, Sarah ; Walia, Jagdeep ; Wilson, Kumanan ; Yuskiv, Nataliya ; Potter, Beth K.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-12, Vol.11 (1), p.168-168, Article 168
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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
Author / Creator:Iverson, Ryan ; Taljaard, Monica ; Geraghty, Michael T. ; Pugliese, Michael ; Tingley, Kylie ; Coyle, Doug ; Kronick, Jonathan B. ; Wilson, Kumanan ; Austin, Valerie ; Brunel-Guitton, Catherine ; Buhas, Daniela ; Butcher, Nancy J. ; Chan, Alicia K. J. ; Dyack, Sarah ; Goobie, Sharan ; Greenberg, Cheryl R. ; Jain-Ghai, Shailly ; Inbar-Feigenberg, Michal ; Karp, Natalya ; Kozenko, Mariya ; Langley, Erica ; Lines, Matthew ; Little, Julian ; MacKenzie, Jennifer ; Maranda, Bruno ; Mercimek-Andrews, Saadet ; Mhanni, Aizeddin ; Mitchell, John J. ; Nagy, Laura ; Offringa, Martin ; Pender, Amy ; Potter, Murray ; Prasad, Chitra ; Ratko, Suzanne ; Salvarinova, Ramona ; Schulze, Andreas ; Siriwardena, Komudi ; Sondheimer, Neal ; Sparkes, Rebecca ; Stockler-Ipsiroglu, Sylvia ; Tapscott, Kendra ; Trakadis, Yannis ; Turner, Lesley ; Van Karnebeek, Clara ; Vandersteen, Anthony ; Walia, Jagdeep S. ; Wilson, Brenda J. ; Yu, Andrea C. ; Potter, Beth K. ; Chakraborty, Pranesh
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-01, Vol.24 (1), p.37-37, Article 37
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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase : a review
Author / Creator:Pugliese, Michael ; Tingley, Kylie ; Chow, Andrea ; Pallone, Nicole ; Smith, Maureen ; Rahman, Alvi ; Chakraborty, Pranesh ; Geraghty, Michael T ; Irwin, Julie ; Tessier, Laure ; Nicholls, Stuart G ; Offringa, Martin ; Butcher, Nancy J ; Iverson, Ryan ; Clifford, Tammy J ; Stockler, Sylvia ; Hutton, Brian ; Paik, Karen ; Tao, Jessica ; Skidmore, Becky ; Coyle, Doug ; Duddy, Kathleen ; Dyack, Sarah ; Greenberg, Cheryl R ; Ghai, Shailly Jain ; Karp, Natalya ; Korngut, Lawrence ; Kronick, Jonathan ; MacKenzie, Alex ; MacKenzie, Jennifer ; Maranda, Bruno ; Mitchell, John J ; Potter, Murray ; Prasad, Chitra ; Schulze, Andreas ; Sparkes, Rebecca ; Taljaard, Monica ; Trakadis, Yannis ; Walia, Jagdeep ; Potter, Beth K ; ,
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-01, Vol.15 (1)
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Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Author / Creator:Chow, Andrea J. ; Pugliese, Michael ; Tessier, Laure A. ; Chakraborty, Pranesh ; Iverson, Ryan ; Coyle, Doug ; Kronick, Jonathan B. ; Wilson, Kumanan ; Hayeems, Robin ; Al-Hertani, Walla ; Inbar-Feigenberg, Michal ; Jain-Ghai, Shailly ; Laberge, Anne-Marie ; Little, Julian ; Mitchell, John J. ; Prasad, Chitra ; Siriwardena, Komudi ; Sparkes, Rebecca ; Speechley, Kathy N. ; Stockler, Sylvia ; Trakadis, Yannis ; Walia, Jagdeep S. ; Wilson, Brenda J. ; Potter, Beth K.
Publisher:Cham: Springer International Publishing
Journal title:The patient : patient-centered outcomes research, 2022-03, Vol.15 (2), p.171-185
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Family‐centred care interventions for children with chronic conditions: A scoping review

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Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort match...

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Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome

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Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission

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Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

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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 Metabolic Diseases Res...

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Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

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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

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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase : a review

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Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey

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