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Text
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URL Address
<a href="http://doi.org/10.1016/s0022-3476(09)90019-1" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(09)90019-1</a>
Dublin Core
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Title
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Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency
Publisher
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The Journal Of Pediatrics
Date
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1993
Subject
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Child; Humans; Male; Preschool; Q3 Literature Search; Recurrence; Fatty Acids/metabolism; Lymphocytes/metabolism; Carnitine O-Palmitoyltransferase/deficiency/metabolism; Creatine Kinase/metabolism; Energy Intake; Liver/enzymology; Transaminases/metabolism
Creator
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Elpeleg ON; Joseph A; Branski D; Christensen E; Holme E; Demaugre F; Saudubray JM; Gutman A
Description
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A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
1993
Identifier
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<a href="http://doi.org/10.1016/s0022-3476(09)90019-1" target="_blank" rel="noreferrer">10.1016/s0022-3476(09)90019-1</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1993
Backlog
Branski D
Carnitine O-Palmitoyltransferase/deficiency/metabolism
Child
Christensen E
Creatine Kinase/metabolism
Demaugre F
Elpeleg ON
Energy Intake
Fatty Acids/metabolism
Gutman A
Holme E
Humans
Joseph A
Journal Article
Liver/enzymology
Lymphocytes/metabolism
Male
Preschool
Q3 Scoping Review Results
Recurrence
Saudubray JM
The Journal Of Pediatrics
Transaminases/metabolism