1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog 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 The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient Publisher An entity responsible for making the resource available Journal Of Inherited Metabolic Disease Date A point or period of time associated with an event in the lifecycle of the resource 2006 Subject The topic of the resource 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 An entity primarily responsible for making the resource Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP Description An account of the resource 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 An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1007/s10545-006-0193-3" target="_blank" rel="noreferrer">10.1007/s10545-006-0193-3</a> Rights Information about rights held in and over the resource 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