Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Catherine Brunel-Guitton"'
Autor:
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
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase
Externí odkaz:
https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093
Autor:
Mehdi Yeganeh, Kaitlin March, Catherine Jones, Gloria Ho, Kathryn A. Selby, Jean-Pierre Chanoine, Sylvia Stockler, Ramona Salvarinova, Gabriella Horvath, Catherine Brunel-Guitton
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100961- (2023)
Introduction: LPIN1 deficiency is an autosomal recessive form of early childhood recurrent severe rhabdomyolysis. Although not completely lucid yet, LPIN1 has been shown to modulate endosomal-related pro-inflammatory responses via peroxisome prolifer
Externí odkaz:
https://doaj.org/article/4bbe55608bd74b03b3b3a13e4421fb26
Autor:
Ivan Shelihan, Elsa Rossignol, Jean‐Claude Décarie, Jean‐Paul Bonnefont, Michèle Brivet, Catherine Brunel‐Guitton, Grant A. Mitchell
Publikováno v:
JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)
Abstract Objective To report an adolescent with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically a
Externí odkaz:
https://doaj.org/article/13ede0852be44847b123dd08457593d7
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence
Externí odkaz:
https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e
Autor:
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 32-38 (2019)
Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I deficiency caused by aut
Externí odkaz:
https://doaj.org/article/1772ef73e0d245b39c0e7dca923f72bc
Autor:
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 24-29 (2017)
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endoly
Externí odkaz:
https://doaj.org/article/f8fbb584749e494c9183c62016b2c939
Autor:
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I deficiency caused by aut
Externí odkaz:
https://doaj.org/article/3758e832685248dbaaa1b5eb721da5de
Autor:
Elsa Rossignol, Grant A. Mitchell, Jean-Claude Décarie, Catherine Brunel-Guitton, Michèle Brivet, Ivan Shelihan, Jean-Paul Bonnefont
Publikováno v:
JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)
JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)
Objective To report an adolescent with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically at age 5 m
Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1
Autor:
Sophie Laberge, Jean-François Soucy, Josée Dubois, M. Delrue, Guylaine D’Amours, Catherine Brunel-Guitton
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(10)
Autor:
Catherine Brunel-Guitton, David Brossier, Geneviève Du Pont-Thibodeau, Nadia Savy, Philippe Jouvet, Laurence Ducharme-Crevier
Publikováno v:
Hepatic Medicine: Evidence and Research
Hepatic Medicine: Evidence and Research, 2018, Volume 10, pp.105-115. ⟨10.2147/HMER.S140711⟩
Hepatic Medicine: Evidence and Research, 2018, Volume 10, pp.105-115. ⟨10.2147/HMER.S140711⟩
Acute hyperammonemia may induce a neurologic impairment leading to an acute life-threatening condition. Coma duration, ammonia peak level, and hyperammonemia duration are the main risk factors of hyperammonemia-related neurologic deficits and death.