Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric A. Crombez, Bernd C. Schwahn, Bryce A. Heese, Timothy C. Wood, Richard J. Schroer, Kristi Bentler, Stephen Cederbaum, Kiki Sarafoglou, Mark McCann, Piero Rinaldo, Dietrich Matern, Cristina Amat di San Filippo, Marzia Pasquali, Susan A. Berry, Nicola Longo

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Biochemistry, Genetics and Molecular Biology