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Orphanet Journal of Rare Diseases
|
March 24, 2019
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
Maria D Karaceper, Sara D Khangura, Kumanan Wilson, et al.
JIMD Reports
|
September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study
Nataliya Yuskiv, Ammar Saad, Beth K Potter, et al.
Orphanet Journal of Rare Diseases
|
June 11, 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
Andrea J Chow, Isabel Jordan, Nicole Pallone, et al.
Neurology. Genetics
|
October 27, 2025
Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative
Alexandra Chapleau, Adam Le, Justin Simo, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy
|
August 5, 2024
Family-centred care interventions for children with chronic conditions: A scoping review
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, et al.
Orphanet Journal of Rare Diseases
|
January 16, 2020
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Michael Pugliese, Kylie Tingley, Andrea Chow, et al.
Pediatrics
|
July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Michael Pugliese, Kylie Tingley, Andrea Chow, et al.
NEJM Evidence
|
February 6, 2024
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI
Nicola Brunetti-Pierri, Rita Ferla, Virginia Maria Ginocchio, et al.
BMJ Open
|
February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Andrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
BMC Pediatrics
|
January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Ryan Iverson, Monica Taljaard, Michael T Geraghty, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 73) with videos related to
Sort By:
Page
of 8
Orphanet Journal of Rare Diseases
|
March 24, 2019
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
Maria D Karaceper, Sara D Khangura, Kumanan Wilson, et al.
JIMD Reports
|
September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study
Nataliya Yuskiv, Ammar Saad, Beth K Potter, et al.
Orphanet Journal of Rare Diseases
|
June 11, 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
Andrea J Chow, Isabel Jordan, Nicole Pallone, et al.
Neurology. Genetics
|
October 27, 2025
Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative
Alexandra Chapleau, Adam Le, Justin Simo, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy
|
August 5, 2024
Family-centred care interventions for children with chronic conditions: A scoping review
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, et al.
Orphanet Journal of Rare Diseases
|
January 16, 2020
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Michael Pugliese, Kylie Tingley, Andrea Chow, et al.
Pediatrics
|
July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Michael Pugliese, Kylie Tingley, Andrea Chow, et al.
NEJM Evidence
|
February 6, 2024
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI
Nicola Brunetti-Pierri, Rita Ferla, Virginia Maria Ginocchio, et al.
BMJ Open
|
February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Andrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
BMC Pediatrics
|
January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Ryan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Page
of 8