Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis

Dietrich Matern, Arnold W. Strauss, Steven L. Hillman, Ertan Mayatepek, David S. Millington, Friedrich Karl Trefz

Research output: Contribution to journal › Article › peer-review

48 Scopus citations

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Medicine & Life Sciences