Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Authors: Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty

Source: BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)

Subject Terms: MCAD deficiency, Core outcome set, Data quality, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093

Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency

Authors: Mehdi Yeganeh, Kaitlin March, Catherine Jones, Gloria Ho, Kathryn A. Selby, Jean-Pierre Chanoine, Sylvia Stockler, Ramona Salvarinova, Gabriella Horvath, Catherine Brunel-Guitton

Source: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100961- (2023)

Subject Terms: Hereditary rhabdomyolysis, LPIN1, Dexamethasone, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000071; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/4bbe55608bd74b03b3b3a13e4421fb26

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

Authors: Ivan Shelihan, Elsa Rossignol, Jean‐Claude Décarie, Jean‐Paul Bonnefont, Michèle Brivet, Catherine Brunel‐Guitton, Grant A. Mitchell

Source: JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)

Subject Terms: CPT2, carnitine, cerebral, heterotopias, infantile, malformation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/13ede0852be44847b123dd08457593d7

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 Metabolic Diseases Research Network

Authors: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

Subject Terms: Inherited metabolic diseases, Observational research, Registry science, Data quality, Database, Sustainability, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01358-z; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e

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

Authors: Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu

Source: Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 32-38 (2019)

Subject Terms: Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426918300909; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/1772ef73e0d245b39c0e7dca923f72bc

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

Authors: Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky

Source: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 24-29 (2017)

Subject Terms: Gangliosidosis, GM2 ganglioside, GM2 ganglioside activator protein, Lysosomal storage disease, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426916301422; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/f8fbb584749e494c9183c62016b2c939

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

Authors: Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu

Source: Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)

Subject Terms: Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919300576; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/3758e832685248dbaaa1b5eb721da5de