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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
- A. Schulze, M. Lindner, D. Kohlmüller, Katharina Olgemöller, E. Mayatepek, G. Hoffmann
- 1 June 2003
The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany.
Molecular and functional characterisation of mild MCAD deficiency
Abstract. We report a novel mild variant of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) diagnosed in four infants who, in neonatal screening, showed abnormal acylcarnitine profiles…