Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders

por Ryckman, Alex E., Brockhausen, Inka, Walia, Jagdeep S.
Publicado 2020

A Comprehensive Review: Sphingolipid Metabolism and Implications of Disruption in Sphingolipid Homeostasis

por Quinville, Brianna M., Deschenes, Natalie M., Ryckman, Alex E., Walia, Jagdeep S.
Publicado 2021

Gene Expression Profile in the Sandhoff Mouse Brain with Progression of Age

por Singh, Kshitiz, Quinville, Brianna M., Mitchell, Melissa, Chen, Zhilin, Walia, Jagdeep S.
Publicado 2022

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

por Ho, Bernice, MacKenzie, Jennifer, Walia, Jagdeep, Geraghty, Michael, Smith, Graeme, Nedvidek, Julie, Guerin, Andrea
Publicado 2019

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

por Prasad, Suyash, Dimmock, David P., Greenberg, Benjamin, Walia, Jagdeep S., Sadhu, Chanchal, Tavakkoli, Fatemeh, Lipshutz, Gerald S.
Publicado 2022

Clinical evaluation of R860Q semi-conservative amino acid substitution in CACNA1C gene in association with long QT syndrome

por Boles, Usama, Simpson, Chris, Gul, Enes E., Kiss, Cortney, Enriquez, Andres, Jia, Zongchao, Baranchuk, Adrián, Walia, Jagdeep S.
Publicado 2017

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model

por Woodley, Evan, Osmon, Karlaina J.L., Thompson, Patrick, Richmond, Christopher, Chen, Zhilin, Gray, Steven J., Walia, Jagdeep S.
Publicado 2018

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

por Tropak, Michael B, Yonekawa, Sayuri, Karumuthil-Melethil, Subha, Thompson, Patrick, Wakarchuk, Warren, Gray, Steven J, Walia, Jagdeep S, Mark, Brian L, Mahuran, Don
Publicado 2016

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis

por Deschenes, Natalie M., Cheng, Camilyn, Ryckman, Alex E., Quinville, Brianna M., Khanal, Prem, Mitchell, Melissa, Chen, Zhilin, Sangrar, Waheed, Gray, Steven J., Walia, Jagdeep S.
Publicado 2023

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis

por Vyas, Meera, Deschenes, Natalie M., Osmon, Karlaina J. L., Chen, Zhilin, Ahmad, Imtiaz, Kot, Shalini, Thompson, Patrick, Richmond, Chris, Gray, Steven J., Walia, Jagdeep S.
Publicado 2023

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay–Sachs Disease and Sandhoff Disease Mouse Models

por Kot, Shalini, Karumuthil-Melethil, Subha, Woodley, Evan, Zaric, Violeta, Thompson, Patrick, Chen, Zhilin, Lykken, Erik, Keimel, John G., Kaemmerer, William F., Gray, Steven J., Walia, Jagdeep S.
Publicado 2021

Mobile element insertion detection in 89,874 clinical exomes

por Torene, Rebecca I., Galens, Kevin, Liu, Shuxi, Arvai, Kevin, Borroto, Carlos, Scuffins, Julie, Zhang, Zhancheng, Friedman, Bethany, Sroka, Hana, Heeley, Jennifer, Beaver, Erin, Clarke, Lorne, Neil, Sarah, Walia, Jagdeep, Hull, Danna, Juusola, Jane, Retterer, Kyle
Publicado 2020

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

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