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  1. No Access

    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.

    Lisa M. Currie, Deshayne B. Fell, Steven Hawken in Maternal and Child Health Journal (2024)

  2. Article

    Open Access

    Assessing 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...

    Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese in BMC Pediatrics (2024)

  3. Article

    Open Access

    Health 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...

    Sara D. Khangura, Beth K. Potter, Christine Davies, Robin Ducharme in BMC Pediatrics (2021)

  4. Article

    Open Access

    A 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...

    Alana Fairfax, Jamie Brehaut, Ian Colman, Lindsey Sikora in BMC Pediatrics (2019)

  5. Article

    Open Access

    Child 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...

    Sara D. Khangura, Kylie Tingley in Journal of Inherited Metabolic Disease (2016)

  6. Article

    Open Access

    Sco** 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...

    Sara D Khangura, Maria D Karaceper, Yannis Trakadis, John J Mitchell in BMC Pediatrics (2015)

  7. No Access

    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...

    Monica F. Lamoureux, Kylie Tingley, Jonathan B. Kronick in JIMD Reports, Volume 21 (2015)

  8. 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...

    Kumanan Wilson, Steven Hawken, Robin Ducharme, Beth K. Potter in Pediatric Research (2014)

  9. No Access

    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...

    Beth K. Potter, Julian Little in Journal of Inherited Metabolic Disease (2012)

  10. Article

    Open Access

    The 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...

    Shelley Kennedy, Beth K Potter, Kumanan Wilson, Lawrence Fisher in BMC Pediatrics (2010)