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Text
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URL Address
<a href="http://doi.org/10.1007/s10545-006-0193-3" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10545-006-0193-3</a>
Dublin Core
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Title
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An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Publisher
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Journal Of Inherited Metabolic Disease
Date
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2006
Subject
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Child; Humans; Male; Fatal Outcome; Preschool; Q3 Literature Search; Diagnosis; Differential; Amino Acid Metabolism; Amino Acids/blood; Inborn Errors/diagnosis; Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis; Ornithine Carbamoyltransferase/deficiency; Orotic Acid/urine
Creator
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Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP
Description
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We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.
2006
Identifier
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<a href="http://doi.org/10.1007/s10545-006-0193-3" target="_blank" rel="noreferrer">10.1007/s10545-006-0193-3</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
2006
Amino Acid Metabolism
Amino Acids/blood
Backlog
Bellizzi A
Burlina AB
Burlina AP
Child
Di Palma A
Diagnosis
Differential
Fatal Outcome
Humans
Inborn Errors/diagnosis
Journal Article
Journal Of Inherited Metabolic Disease
Male
Morrone A
Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis
Ornithine Carbamoyltransferase/deficiency
Orotic Acid/urine
Peduto A
Preschool
Q3 Scoping Review Results
Sperli D