Case Reports
doi: 10.1016/s0022-3476(99)70295-7.
Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card
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- PMID: 10356148
- DOI: 10.1016/s0022-3476(99)70295-7
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Case Reports
Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card
J Pediatr.
1999 Jun.
Abstract
We report a family who experienced an unexplained neonatal death. Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme A dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived newborn screening card, using tandem mass spectrometry.
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