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

Access to Document

10.1023/A:1012476029536

Fingerprint Dive into the research topics of 'Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency'. Together they form a unique fingerprint.

Cite this

@article{141551b6683c4aada08b25c82c1967d6,

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",

year = "2001",

doi = "10.1023/A:1012476029536",

language = "English",

volume = "24",

pages = "601--602",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "5",

}

TY - JOUR

T1 - Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

AU - Invernizzi, F.

AU - Burlina, A. B.

AU - Donadio, A.

AU - Giordano, G.

AU - Taroni, F.

AU - Garavaglia, B.

PY - 2001

Y1 - 2001

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0035149665&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035149665&partnerID=8YFLogxK

U2 - 10.1023/A:1012476029536

DO - 10.1023/A:1012476029536

M3 - Article

C2 - 11757589

AN - SCOPUS:0035149665

VL - 24

SP - 601

EP - 602

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 5

ER -