J Pediatr. 2006 Jun;148(6):779-83.
The value of the metabolic autopsy in the pediatric hospital setting.
Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.
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In this review of 23 cases performed at the Children’s Hospital of Philadelphia, a metabolic autopsy permitted the identification of an undiagnosed metabolic disease in 18% of the cases.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator