Morquio B disease: a case report by Tara Gholamian, Harpreet Chhina, Sylvia Stockler, Sylvia Stockler, Anthony Cooper, Anthony Cooper

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Disruptive Behaviors and Intellectual Disability: Creating a New Script by Melvin Chin-Hao Chan, Mackenzie Campbell, Nadia Beyzaei, Sylvia Stockler, Sylvia Stockler, Osman S. Ipsiroglu, Osman S. Ipsiroglu

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Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility by Sophia C. Gjervan, Oguz K. Ozgoren, Alexander Gow, Sylvia Stockler-Ipsiroglu, Sylvia Stockler-Ipsiroglu, Mahmoud A. Pouladi

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Iron deficiency and common neurodevelopmental disorders-A scoping review. by Scout McWilliams, Ishmeet Singh, Wayne Leung, Sylvia Stockler, Osman S Ipsiroglu

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Iron deficiency and common neurodevelopmental disorders—A scoping review by Scout McWilliams, Ishmeet Singh, Wayne Leung, Sylvia Stockler, Osman S. Ipsiroglu

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Dietary management and growth outcomes in children with propionic acidemia: A natural history study by Haneen Saleemani, Csilla Egri, Gabriella Horvath, Sylvia Stockler‐Ipsiroglu, Rajavel Elango

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Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test by Abrar Turki, Sylvia Stockler, Sandra Sirrs, Kathleen Duddy, Gloria Ho, Rajavel Elango

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Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition by Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu

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Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia by Abrar Turki, Sylvia Stockler, Sandra Sirrs, Ramona Salvarinova, Gloria Ho, Jennifer Branov, Annie Rosen-Heath, Taryn Bosdet, Rajavel Elango

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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency by Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu

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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency by Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu

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Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency by Mehdi Yeganeh, Kaitlin March, Catherine Jones, Gloria Ho, Kathryn A. Selby, Jean-Pierre Chanoine, Sylvia Stockler, Ramona Salvarinova, Gabriella Horvath, Catherine Brunel-Guitton

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Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children by Shelley M. Vanderhout, Maureen Smith, Nicole Pallone, Kylie Tingley, Michael Pugliese, Pranesh Chakraborty, Sylvia Stockler, Martin Offringa, Nancy Butcher, Stuart G. Nicholls, Beth K. Potter

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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app by Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek

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Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22) by Oguz K. Ozgoren, Glen Lester Sequiera, Costanza Ferrari Bardile, Sophia C. Gjervan, Areesha Salman, Anna Lehman, Stuart E. Turvey, Colin J.D. Ross, Sylvia Stockler, Mahmoud A. Pouladi

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Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness o... by Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network

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Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies by Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG

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Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices by Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype by Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani

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Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report by Geraldine Blanchard-Rohner, Robert J. Ragotte, Anne K. Junker, Mehul Sharma, Kate L. Del Bel, Henry Y. Lu, Stephanie Erdle, Alanna Chomyn, Harinder Gill, Lori B. Tucker, Richard A. Schreiber, Jacob Rozmus, Catherine M. Biggs, Kyla J. Hildebrand, John Wu, Sylvia Stockler-Ipsiroglu, Stuart E. Turvey

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