Bibliotecas PUC-SP - Busca Integrada

Morquio B disease: a case report

od Tara Gholamian, Harpreet Chhina, Sylvia Stockler, Sylvia Stockler, Anthony Cooper, Anthony Cooper
Izdano u Frontiers in Pediatrics (2024-03-01)

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility

od Sophia C. Gjervan, Oguz K. Ozgoren, Alexander Gow, Sylvia Stockler-Ipsiroglu, Sylvia Stockler-Ipsiroglu, Mahmoud A. Pouladi
Izdano u Frontiers in Cellular Neuroscience (2024-01-01)

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct <i>GLB1</i>-Related Dysostosis Multiplex

od Nataliya Yuskiv, Katsumi Higaki, Sylvia Stockler-Ipsiroglu
Izdano u International Journal of Molecular Sciences (2020-11-01)

Disruptive Behaviors and Intellectual Disability: Creating a New Script

od Melvin Chin-Hao Chan, Mackenzie Campbell, Nadia Beyzaei, Sylvia Stockler, Sylvia Stockler, Osman S. Ipsiroglu, Osman S. Ipsiroglu
Izdano u Frontiers in Psychiatry (2022-07-01)

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

od Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu
Izdano u JIMD Reports (2020-01-01)

Dietary management and growth outcomes in children with propionic acidemia: A natural history study

od Haneen Saleemani, Csilla Egri, Gabriella Horvath, Sylvia Stockler‐Ipsiroglu, Rajavel Elango
Izdano u JIMD Reports (2021-09-01)

Iron deficiency and common neurodevelopmental disorders—A scoping review

od Scout McWilliams, Ishmeet Singh, Wayne Leung, Sylvia Stockler, Osman S. Ipsiroglu
Izdano u PLoS ONE (2022-01-01)

Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test

od Abrar Turki, Sylvia Stockler, Sandra Sirrs, Kathleen Duddy, Gloria Ho, Rajavel Elango
Izdano u Molecular Genetics and Metabolism Reports (2023-03-01)

Iron deficiency and common neurodevelopmental disorders-A scoping review.

od Scout McWilliams, Ishmeet Singh, Wayne Leung, Sylvia Stockler, Osman S Ipsiroglu
Izdano u PLoS ONE (2022-01-01)

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

od Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu
Izdano u Molecular Genetics and Metabolism Reports (2018-09-01)

Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia

od Abrar Turki, Sylvia Stockler, Sandra Sirrs, Ramona Salvarinova, Gloria Ho, Jennifer Branov, Annie Rosen-Heath, Taryn Bosdet, Rajavel Elango
Izdano u Molecular Genetics and Metabolism Reports (2022-06-01)

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

od Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Izdano u Molecular Genetics and Metabolism Reports (2019-06-01)

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

od Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Izdano u Molecular Genetics and Metabolism Reports (2019-03-01)

Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency

od Mehdi Yeganeh, Kaitlin March, Catherine Jones, Gloria Ho, Kathryn A. Selby, Jean-Pierre Chanoine, Sylvia Stockler, Ramona Salvarinova, Gabriella Horvath, Catherine Brunel-Guitton
Izdano u Molecular Genetics and Metabolism Reports (2023-06-01)

Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children

od 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
Izdano u Research Involvement and Engagement (2021-09-01)

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

od 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
Izdano u Orphanet Journal of Rare Diseases (2021-04-01)

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

od 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
Izdano u Stem Cell Research (2023-09-01)

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine

od Xiao Li, Mehdi Yeganeh, Graham Sinclair, Jill Mwenifumbo, Karen J. Jacob, Laura Arbour, Anna Lehman, Bojana Rakic, Frédéric M. Vaz, Gabriella Horvath, Maja Tarailo-Graovac, Sylvia Stockler-Ipsiroglu
Izdano u npj Genomic Medicine (2025-09-01)

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...

od 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
Izdano u Orphanet Journal of Rare Diseases (2018-06-01)

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

od 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
Izdano u Journal of Inborn Errors of Metabolism and Screening (2016-09-01)