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Text
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Citation List Month
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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
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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
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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
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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
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