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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 AccessHealth services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative compa...
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Article
Open AccessExperiences of caregivers of children with inherited metabolic diseases: a qualitative study
We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their...
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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...
