PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only

por Benner, Anne, Alhaidan, Yazeid, Lines, Matthew A., Brusgaard, Klaus, De Leon, Diva D., Sparkes, Rebecca, Frederiksen, Anja L., Christesen, Henrik T.
Publicado 2021

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study

por Burton, Barbara K., Berger, Kenneth I., Lewis, Gregory D., Tarnopolsky, Mark, Treadwell, Marsha, Mitchell, John J., Muschol, Nicole, Jones, Simon A., Sutton, V. Reid, Pastores, Gregory M., Lau, Heather, Sparkes, Rebecca, Genter, Fred, Shaywitz, Adam J., Harmatz, Paul
Publicado 2015

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

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys

por Howie, Alison H., Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J., Butcher, Nancy J., Offringa, Martin, Smith, Maureen, Angel, Kim, Gentle, Jenifer, Wyatt, Alexandra, Campeau, Philippe M., Chan, Alicia, Chakraborty, Pranesh, El Turk, Farah, Mamak, Eva, Mhanni, Aizeddin, Skidmore, Becky, Sparkes, Rebecca, Stockler, Sylvia, Potter, Beth K.
Publicado 2021

Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surv...

por Howie, Alison H., Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J., Butcher, Nancy J., Offringa, Martin, Smith, Maureen, Angel, Kim, Gentle, Jenifer, Wyatt, Alexandra, Campeau, Philippe M., Chan, Alicia, Chakraborty, Pranesh, El Turk, Farah, Mamak, Eva, Mhanni, Aizeddin, Skidmore, Becky, Sparkes, Rebecca, Stockler, Sylvia, Potter, Beth K.
Publicado 2021

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

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

por 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.
Publicado 2020

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

por 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
Publicado 2022

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