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The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario |
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| Authors: | Shelley Kennedy Beth K Potter Kumanan Wilson Lawrence Fisher Michael Geraghty Jennifer Milburn Pranesh Chakraborty |
| Affiliation: | 1.Newborn Screening Ontario,Children's Hospital of Eastern Ontario,Ottawa,Canada;2.Department of Epidemiology & Community Medicine,University of Ottawa,Ottawa,Canada;3.Department of Medicine, Ottawa Hospital Research Institute,University of Ottawa,Ottawa,Canada;4.Department of Pediatrics,University of Ottawa,Ottawa,Canada;5.Department of Pathology and Laboratory Medicine,University of Ottawa,Ottawa,Canada |
| Abstract: | BackgroundMedium 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 screening permits the introduction of interventions that can significantly reduce associated morbidity and mortality. This study reports on the first three years of newborn screening for MCADD in Ontario, Canada. |
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