Metabolic autopsy

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

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.
 

 

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

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