Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

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

doi:10.1023/A:1012476029536

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	601-602
Number of pages	2
Journal	Journal of Inherited Metabolic Disease
Volume	24
Issue number	5
DOIs	https://doi.org/10.1023/A:1012476029536
Publication status	Published - 2001

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Endocrinology

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title = "Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency",

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.",

author = "F. Invernizzi and Burlina, {A. B.} and A. Donadio and G. Giordano and F. Taroni and B. Garavaglia",

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language = "English",

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AU - Invernizzi, F.

AU - Burlina, A. B.

AU - Donadio, A.

AU - Giordano, G.

AU - Taroni, F.

AU - Garavaglia, B.

PY - 2001

Y1 - 2001

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AB - 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.

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Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

Abstract

ASJC Scopus subject areas

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