Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8343837 | Molecular Genetics and Metabolism | 2014 | 7 Pages |
Abstract
Changes in blood concentration of certain metabolites (amino acids, acyl-carnitines) in the first weeks of life may be predictive of the need for treatment in some disorders but not in others. Mutation analysis may be predictive in some disorders but whether or not this should be considered as second-tier testing in NBS should be discussed separately.
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Biochemistry
Authors
M. Barends, J. Pitt, S. Morrissy, N. Tzanakos, A. Boneh, On behalf of the Newborn Screening Laboratory Staff On behalf of the Newborn Screening Laboratory Staff,