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 | |
| Publication status | Published - 2001 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Endocrinology
Cite this
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. / Invernizzi, F.; Burlina, A. B.; Donadio, A.; Giordano, G.; Taroni, F.; Garavaglia, B.
In: Journal of Inherited Metabolic Disease, Vol. 24, No. 5, 2001, p. 601-602.Research output: Contribution to journal › Article
}
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
VL - 24
SP - 601
EP - 602
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 5
ER -