Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

por Wilson, Ashley, Cruz, Vivian, Kronick, Jonathan B.
Publicado 2020

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

por Farhan, Sali M K, Wang, Jian, Robinson, John F, Lahiry, Piya, Siu, Victoria M, Prasad, Chitra, Kronick, Jonathan B, Ramsay, David A, Rupar, C Anthony, Hegele, Robert A
Publicado 2014

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

por Potter, Beth K., Chakraborty, Pranesh, Kronick, Jonathan B., Wilson, Kumanan, Coyle, Doug, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria D., Little, Julian, Mhanni, Aizeddin, Mitchell, John J., Siriwardena, Komudi, Wilson, Brenda J., Syrowatka, Ania
Publicado 2013

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

por Khangura, Sara D., Tingley, Kylie, Chakraborty, Pranesh, Coyle, Doug, Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Miller, Fiona A, Mitchell, John J., Prasad, Chitra, Siddiq, Shabnaz, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy N., Stockler, Sylvia, Trakadis, Yannis, Wilson, Brenda J., Wilson, Kumanan, Potter, Beth K.
Publicado 2015

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

por Khangura, Sara D, Karaceper, Maria D, Trakadis, Yannis, Mitchell, John J, Chakraborty, Pranesh, Tingley, Kylie, Coyle, Doug, Grosse, Scott D, Kronick, Jonathan B, Laberge, Anne-Marie, Little, Julian, Prasad, Chitra, Sikora, Lindsey, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy N, Stockler, Sylvia, Wilson, Brenda J, Wilson, Kumanan, Zayed, Reem, Potter, Beth K
Publicado 2015

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

por Karaceper, Maria D., Chakraborty, Pranesh, Coyle, Doug, Wilson, Kumanan, Kronick, Jonathan B., Hawken, Steven, Davies, Christine, Brownell, Marni, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B., Grosse, Scott D., Guttmann, Astrid, Laberge, Anne-Marie, Mhanni, Aizeddin, Miller, Fiona A., Mitchell, John J., Nakhla, Meranda, Prasad, Chitra, Rockman-Greenberg, Cheryl, Sparkes, Rebecca, Wilson, Brenda J., Potter, Beth K.
Publicado 2016

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

por 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.
Publicado 2021

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

por 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.
Publicado 2016

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

por Karaceper, Maria D., Khangura, Sara D., Wilson, Kumanan, Coyle, Doug, Brownell, Marni, Davies, Christine, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B., Grosse, Scott D., Guttmann, Astrid, Hawken, Steven, Hayeems, Robin Z., Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Mhanni, Aizeddin, Mitchell, John J., Nakhla, Meranda, Potter, Murray, Prasad, Chitra, Rockman-Greenberg, Cheryl, Sparkes, Rebecca, Stockler, Sylvia, Ueda, Keiko, Vallance, Hilary, Wilson, Brenda J., Chakraborty, Pranesh, Potter, Beth K.
Publicado 2019

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...

por 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
Publicado 2020