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/10.1212/01.WNL.0000167428.12417.B2" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.WNL.0000167428.12417.B2</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 Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency Publisher An entity responsible for making the resource available Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2005 Subject The topic of the resource Humans; Male; Aged; Treatment Outcome; Disease Progression; Magnetic Resonance Imaging; Food; Q3 Literature Search; Brain Diseases; Age of Onset; DNA Mutational Analysis; Mutation/genetics; Metabolic; Atrophy/enzymology/genetics/physiopathology; Carnitine/therapeutic use; Cerebral Cortex/enzymology/pathology/physiopathology; Cognition Disorders/enzymology/genetics/physiopathology; Formulated; Glutaryl-CoA Dehydrogenase/deficiency; Inborn/enzymology/genetics/physiopathology; Lateral Ventricles/pathology; Movement Disorders/enzymology/genetics/physiopathology; Myelinated/pathology; Nerve Fibers Creator An entity primarily responsible for making the resource Kulkens S; Harting I; Sauer S; Zschocke J; Hoffmann GF; Gruber S; Bodamer OA; Kolker S Description An account of the resource Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. 2005 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1212/01.WNL.0000167428.12417.B2" target="_blank" rel="noreferrer">10.1212/01.WNL.0000167428.12417.B2</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 2005 Age of Onset Aged Atrophy/enzymology/genetics/physiopathology Backlog Bodamer OA Brain Diseases Carnitine/therapeutic use Cerebral Cortex/enzymology/pathology/physiopathology Cognition Disorders/enzymology/genetics/physiopathology Disease Progression DNA Mutational Analysis Food Formulated Glutaryl-CoA Dehydrogenase/deficiency Gruber S Harting I Hoffmann GF Humans Inborn/enzymology/genetics/physiopathology Journal Article Kolker S Kulkens S Lateral Ventricles/pathology Magnetic Resonance Imaging Male Metabolic Movement Disorders/enzymology/genetics/physiopathology Mutation/genetics Myelinated/pathology Nerve Fibers Neurology Q3 Scoping Review Results Sauer S Treatment Outcome Zschocke J