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J Pediatr. 1999 Jun;134(6):764-6.

Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.

Author information

1
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.

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.

PMID:
10356148
DOI:
10.1016/s0022-3476(99)70295-7
[Indexed for MEDLINE]

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