Zobrazeno 1 - 7
of 7
pro vyhledávání: '"in collaboration with the Canadian Inherited Metabolic Diseases Research Network"'
Autor:
Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter, In collaboration with the Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clin
Externí odkaz:
https://doaj.org/article/339498d7ae1941d184fb9259db196a6f
Autor:
Alana Fairfax, Jamie Brehaut, Ian Colman, Lindsey Sikora, Alessia Kazakova, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-16 (2019)
Abstract Background Parents of children with chronic illness have reported decreased psychological and physical quality of life (QoL) relative to parents of children without such illness, which may be associated with the extent of complexity involved
Externí odkaz:
https://doaj.org/article/81d0f306aee24bb793664f452c67119c
Autor:
Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. Methods
Externí odkaz:
https://doaj.org/article/a72bcbf99e054f53a45cf6d8dba004cf
Autor:
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)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newbo
Externí odkaz:
https://doaj.org/article/1b98183cdc9642988c4908da010160cd
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Abstract Introduction For many rare diseases, strong analytic study designs for evaluating the efficacy and effectiveness of interventions are challenging to implement because of small, geographically dispersed patient populations and underlying clin
Externí odkaz:
https://doaj.org/article/94b04835bd0a4e088db0ea76039580dd
Autor:
Beth K. Potter, Brian Hutton, Tammy J. Clifford, Nicole Pallone, Maureen Smith, Sylvia Stockler, Pranesh Chakraborty, Pauline Barbeau, Chantelle M. Garritty, Michael Pugliese, Alvi Rahman, Becky Skidmore, Laure Tessier, Kylie Tingley, Doug Coyle, Cheryl R. Greenberg, Lawrence Korngut, Alex MacKenzie, John J. Mitchell, Stuart Nicholls, Martin Offringa, Andreas Schulze, Monica Taljaard, In collaboration with the Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Trials, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which
Externí odkaz:
https://doaj.org/article/935184723f7a4133894c758541043d09
Autor:
Tingley, Kylie, Coyle, Doug, Graham, Ian D., Sikora, Lindsey, Chakraborty, Pranesh, Wilson, Kumanan, Mitchell, John J., Stockler-Ipsiroglu, Sylvia, Potter, Beth K., in collaboration with the Canadian Inherited Metabolic Diseases Research Network, Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Orphanet Journal of Rare Diseases; 6/28/2018, Vol. 13 Issue 1, pN.PAG-N.PAG, 1p