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Article
Relationship Between Gestational Weight Gain and Health Service Utilization in Early Childhood: A Retrospective Cohort Study
Gestational weight gain (GWG) outside recommended ranges can negatively impact both the woman and child. The long-term effects of below-recommended or above-recommended GWG on the child are unclear.
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Article
Open AccessAssessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain a...
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Article
Open AccessHealth services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening
Newborn screening (NBS) for sickle cell disease incidentally identifies heterozygous carriers of hemoglobinopathy mutations. In Ontario, Canada, these carrier results are not routinely disclosed, presenting an...
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Article
Open AccessA systematic review of the association between co** strategies and quality of life among caregivers of children with chronic illness and/or disability
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 o...
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Article
Open AccessChild and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups
Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patien...
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Article
Open AccessSco** review of patient- and family-oriented outcomes and measures for chronic pediatric disease
Improvements in health care for children with chronic diseases must be informed by research that emphasizes outcomes of importance to patients and families. To support a program of research in the field of rar...
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Chapter
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
Introduction: Nearly all children in Canada with an inherited metabolic disease (IMD) are treated at one of the country’s Hereditary Metabolic Disease Treatment Centres. We sought to understand the...
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Article
Metabolomics of prematurity: analysis of patterns of amino acids, enzymes, and endocrine markers by categories of gestational age
Prematurity may influence the levels of amino acids, enzymes, and endocrine markers obtained through newborn screening. Identifying which analytes are the most affected by degree of prematurity could provide i...
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Article
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians
There is little robust empirical evidence on which to base treatment recommendations for fatty acid oxidation disorders. While consensus guidelines are important, understanding areas where there is a lack of c...
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Article
Open AccessThe first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of mitochondrial fatty acid oxidation and is one of the most common inborn errors of metabolism. Identification of MCADD via newborn screeni...