Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Chakraborty, A."'
Autor:
Hosen, Mohammad Jakir, Anwar, Saeed, Taslem Mourosi, Jarin, Chakraborty, Sourav, Miah, Md. Faruque, Vanakker, Olivier M.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases
With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people living in low and lower-middle-income cou
Autor:
Kylie Tingley, Ian D. Graham, Kumanan Wilson, Doug Coyle, Beth K. Potter, Pranesh Chakraborty
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
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 clinical effe
Autor:
Ashley Wilson, Erica Langley, Mariya Kozenko, Aizeddin A. Mhanni, Matthew A. Lines, Annette Feigenbaum, Sharan Goobie, Beth K. Potter, Valerie Austin, Andrea C. Yu, Suzanne Ratko, Saadet Mercimek-Andrews, Rebecca Sparkes, Natalya Karp, Hilary Vallance, Anthony Vandersteen, Alette Giezen, Kylie Tingley, Komudi Siriwardena, Melanie Napier, Kumanan Wilson, Julian Little, Chitra Prasad, Bruno Maranda, Brenda Wilson, Cheryl R. Greenberg, Yannis Trakadis, Grant A. Mitchell, Doug Coyle, Amy Pender, Nataliya Yuskiv, Sylvia Stockler-Ipsiroglu, Jagdeep S. Walia, Murray A. Potter, Alicia K. J. Chan, Michal Inbar-Feigenberg, Clara D.M. van Karnebeek, Michael Pugliese, Jonathan B. Kronick, Shailly Jain Ghai, Andreas Schulze, Catherine Brunel-Guitton, Laura Nagy, Monica Lamoureux, Michael T. Geraghty, Sarah Dyack, Ramona Salvarinova, Connie M Mohan, Jennifer MacKenzie, Pranesh Chakraborty, Daniela Buhas, John J. Mitchell, Michael Kowalski, Lesley Turner, Neal Sondheimer
Publikováno v:
Orphanet Journal of Rare Diseases
Paediatrics Publications
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Paediatrics Publications
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
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 to improv
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
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
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 newborn screen
Autor:
Sylvia Stockler-Ipsiroglu, Beth K Potter, Ian D. Graham, Pranesh Chakraborty, Kylie Tingley, Kumanan Wilson, John J. Mitchell, Doug Coyle, Lindsey Sikora
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
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 clinical hete
Autor:
Deshayne B. Fell, Scott D. Grosse, Kumanan Wilson, Beth K. Potter, Hilary Vallance, John J. Mitchell, Steven Hawken, Annette Feigenbaum, Robin Z. Hayeems, Cheryl Rockman-Greenberg, Chitra Prasad, Doug Coyle, Astrid Guttmann, Brenda Wilson, Keiko Ueda, Anne-Marie Laberge, Jonathan B. Kronick, Sylvia Stockler, Christine Davies, Sara D. Khangura, Meranda Nakhla, Rebecca Sparkes, Maria D. Karaceper, Aizeddin A. Mhanni, Murray A. Potter, Pranesh Chakraborty, Julian Little, Marni Brownell, Linda Dodds
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Paediatrics Publications
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Paediatrics Publications
Copyright: The Authors in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Background: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficie
Autor:
Robin Z. Hayeems, Sarah Dyack, Brenda Wilson, Jane Gillis, Rebecca Sparkes, Nataliya Yuskiv, Beth K. Potter, Yannis Trakadis, Pranesh Chakraborty, Doug Coyle, Sarah Wafa, Kylie Tingley, Sylvia Stockler, Julian Little, Komudi Siriwardena, Laure Tessier, Shailly Jain-Ghai, Kumanan Wilson, John J. Mitchell, Jonathan B. Kronick, Kathy N. Speechley, Sara D. Khangura, Jagdeep S. Walia, Anne-Marie Laberge, Monica Lamoureux, Ian D. Graham, Shabnaz Siddiq, Chitra Prasad, Cheryl R. Greenberg
Publikováno v:
Orphanet Journal of Rare Diseases
Paediatrics Publications
Paediatrics Publications
Background: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the ma