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2009•Molecular Genetics and MetabolismRequires access

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

R.L. Puckett, Fred Lorey, Piero Rinaldo, Mark Lipson, Dietrich Matern, Mary Sowa, Stuart S. Levine, Richard Chang, R. Y. Wang, José E. Abdenur

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Key concepts: Maple syrup urine disease, Newborn screening, Proband, Asymptomatic, Medicine, Leucine, Valine, Urine

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