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JIMD Reports
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February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
Monica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
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.
Human Molecular Genetics
|
November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
James P Allen, Kathryn B Garber, Riley Perszyk, 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.
Nature Communications
|
November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther, Marsha Speevak, Christine M Armour, 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.
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.
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Search research articles
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Showing results (91-100 of 114) with videos related to
Sort By:
Page
of 12
JIMD Reports
|
February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
Monica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
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.
Human Molecular Genetics
|
November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
James P Allen, Kathryn B Garber, Riley Perszyk, 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.
Nature Communications
|
November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther, Marsha Speevak, Christine M Armour, 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.
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.
Page
of 12