Determining Ideal Balance Among Branched-Chain Amino Acids (BCAA) as a Proof of Concept Study in Healthy Children

od Saleemani, Haneen, Elango, Rajavel, Horvath, Gabriella, Stockler, Sylvia
Izdano u Curr Dev Nutr (2020)

Challenging sleep-wake behaviors reported in informal, conversational interviews of caregivers of children with fetal alcohol spectrum disorder

od Spruyt, Karen, Ipsiroglu, Osman, Stockler, Sylvia, Reynolds, James N.
Izdano u Int J Dev Disabil (2016)

Development of Minimally Invasive 13C-Glucose Breath Test to Examine Different Dietary Therapies in Patients with Glycogen Storage Disorders

od Turki, Abrar, Stockler, Sylvia, Sirrs, Sandra, Salvarinova, Ramona, Elango, Rajavel
Izdano u Curr Dev Nutr (2020)

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

od Horvath, Gabriella, Sirrs, Sandra, Stockler, Sylvia, Salvarinova-Zivkovic, Ramona, Vallance, Hilary, Waters, Paula
Izdano 2013

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

od van Karnebeek, Clara D M, Houben, Roderick F A, Lafek, Mirafe, Giannasi, Wynona, Stockler, Sylvia
Izdano 2012

“Emplotted Narratives” and Structured “Behavioral Observations” Supporting the Diagnosis of Willis‐Ekbom Disease/Restless Legs Syndrome in Children with Neurodevelopmental Conditio...

od Ipsiroglu, Osman S., Beyzaei, Nadia, Berger, Mai, Wagner, Alexandra L., Dhalla, Sophia, Garden, Jennifer, Stockler, Sylvia
Izdano u CNS Neurosci Ther (2016)

Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy

od van Karnebeek, Clara, Horvath, Gabriella, Murphy, Tyler, Purtzki, Jacqueline, Bowden, Kristin, Sirrs, Sandra, Honey, Christopher R., Stockler, Sylvia
Izdano u JIMD Rep (2014)

Prenatal alcohol exposure and sleep-wake behaviors: exploratory and naturalistic observations in the clinical setting and in an animal model

od Ipsiroglu, Osman S., Wind, Katarina, Hung, Yi-Hsuan (Amy), Berger, Mai, Chan, Forson, Yu, Wayne, Stockler, Sylvia, Weinberg, Joanne
Izdano u Sleep Med (2018)

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

od Yuskiv, Nataliya, Potter, Beth K., Stockler, Sylvia, Ueda, Keiko, Giezen, Alette, Cheng, Barbara, Langley, Erica, Ratko, Suzanne, Austin, Valerie, Chapman, Maggie, Chakraborty, Pranesh, Collet, Jean Paul, Pender, Amy
Izdano u Orphanet J Rare Dis (2019)

Pyridoxine responsiveness in novel mutations of the PNPO gene

od Plecko, Barbara, Paul, Karl, Mills, Philippa, Clayton, Peter, Paschke, Eduard, Maier, Oliver, Hasselmann, Oswald, Schmiedel, Gudrun, Kanz, Simone, Connolly, Mary, Wolf, Nicole, Struys, Eduard, Stockler, Sylvia, Abela, Lucia, Hofer, Doris
Izdano 2014

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

od Brunham, Liam R., Kang, Martin H., Van Karnebeek, Clara, Sadananda, Singh N., Collins, Jennifer A., Zhang, Lin-Hua, Sayson, Bryan, Miao, Fudan, Stockler, Sylvia, Frohlich, Jiri, Cassiman, David, Rabkin, Simon W., Hayden, Michael R.
Izdano u JIMD Rep (2014)

“Diagnosis by Behavioral Observation” Home-Videosomnography – A Rigorous Ethnographic Approach to Sleep of Children with Neurodevelopmental Conditions

od Ipsiroglu, Osman S., Hung, Yi-Hsuan Amy, Chan, Forson, Ross, Michelle L., Veer, Dorothee, Soo, Sonja, Ho, Gloria, Berger, Mai, McAllister, Graham, Garn, Heinrich, Kloesch, Gerhard, Barbosa, Adriano Vilela, Stockler, Sylvia, McKellin, William, Vatikiotis-Bateson, Eric
Izdano u Front Psychiatry (2015)

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

od Stockler, Sylvia, Corvera, Silvia, Lambright, David, Fogarty, Kevin, Nosova, Ekaterina, Leonard, Deborah, Steinfeld, Robert, Ackerley, Cameron, Shyr, Casper, Au, Nicolas, Selby, Kathrin, van Allen, Margot, Vallance, Hilary, Wevers, Ron, Watkins, David, Rosenblatt, David, Ross, Colin J, Conibear, Elizabeth, Wasserman, Wyeth, van Karnebeek, Clara
Izdano 2014

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

od 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.
Izdano u J Inherit Metab Dis (2015)

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

od 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
Izdano u BMC Pediatr (2015)

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

od Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
Izdano u Brain (2020)

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi sur...

od Potter, Beth K., Hutton, Brian, Clifford, Tammy J., Pallone, Nicole, Smith, Maureen, Stockler, Sylvia, Chakraborty, Pranesh, Barbeau, Pauline, Garritty, Chantelle M., Pugliese, Michael, Rahman, Alvi, Skidmore, Becky, Tessier, Laure, Tingley, Kylie, Coyle, Doug, Greenberg, Cheryl R., Korngut, Lawrence, MacKenzie, Alex, Mitchell, John J., Nicholls, Stuart, Offringa, Martin, Schulze, Andreas, Taljaard, Monica
Izdano u Trials (2017)

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

od 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.
Izdano u Patient (2021)

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

od Lamoureux, Monica F., Tingley, Kylie, Kronick, Jonathan B., Potter, Beth K., Chan, Alicia K. J., Coyle, Doug, Dodds, Linda, Dyack, Sarah, Feigenbaum, Annette, Geraghty, Michael, Gillis, Jane, Rockman-Greenberg, Cheryl, Khan, Aneal, Little, Julian, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin, Mitchell, John J., Mitchell, Grant, Laberge, Anne-Marie, Potter, Murray, Prasad, Chitra, Siriwardena, Komudi, Speechley, Kathy N., Stockler, Sylvia, Trakadis, Yannis, Turner, Lesley, Van Karnebeek, Clara, Wilson, Kumanan, Chakraborty, Pranesh
Izdano u JIMD Rep (2015)

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

od 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.
Izdano u Orphanet J Rare Dis (2016)