Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

F. Invernizzi, A. B. Burlina, A. Donadio, G. Giordano, F. Taroni, B. Garavaglia

Research output: Contribution to journalArticlepeer-review

Abstract

A neonate subsequently diagnosed with carnitine palmitoyl-transferase I deficiency died at 34 h of untreatable bradycardia. There was fatty infiltration of the liver and increased free carnitine and reduced acylcarnitines in the blood.

Original languageEnglish
Pages (from-to)601-602
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume24
Issue number5
DOIs
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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