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The New England Journal of Medicine
|
November 9, 2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
Jennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, et al.
Orphanet Journal of Rare Diseases
|
February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Maria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Plos One
|
March 6, 2023
Development and external validation of machine learning algorithms for postnatal gestational age estimation using clinical data and metabolomic markers
Steven Hawken, Robin Ducharme, Malia S Q Murphy, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Gates Open Research
|
February 4, 2021
Metabolic gestational age assessment in low resource settings: a validation protocol
A Brianne Bota, Victoria Ward, Stephen Hawken, et al.
Wellcome Open Research
|
September 16, 2020
Half a Century of Wilson & Jungner: Reflections on the Governance of Population Screening
Steve Sturdy, Fiona Miller, Stuart Hogarth, et al.
The Patient
|
July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Andrea J Chow, Michael Pugliese, Laure A Tessier, et al.
Orphanet Journal of Rare Diseases
|
December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Shabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
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.
Page
of 16
Search research articles
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Showing results (131-140 of 154) with videos related to
Sort By:
Page
of 16
The New England Journal of Medicine
|
November 9, 2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
Jennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, et al.
Orphanet Journal of Rare Diseases
|
February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Maria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Plos One
|
March 6, 2023
Development and external validation of machine learning algorithms for postnatal gestational age estimation using clinical data and metabolomic markers
Steven Hawken, Robin Ducharme, Malia S Q Murphy, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Gates Open Research
|
February 4, 2021
Metabolic gestational age assessment in low resource settings: a validation protocol
A Brianne Bota, Victoria Ward, Stephen Hawken, et al.
Wellcome Open Research
|
September 16, 2020
Half a Century of Wilson & Jungner: Reflections on the Governance of Population Screening
Steve Sturdy, Fiona Miller, Stuart Hogarth, et al.
The Patient
|
July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Andrea J Chow, Michael Pugliese, Laure A Tessier, et al.
Orphanet Journal of Rare Diseases
|
December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Shabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
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.
Page
of 16