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Text
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URL Address
<a href="http://doi.org/10.1016/j.jpeds.2005.12.028" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.jpeds.2005.12.028</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
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
Publisher
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The Journal Of Pediatrics
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; infant; Cohort Studies; Adult; Prognosis; Middle Aged; Disease Progression; Netherlands; Severity of Illness Index; Longitudinal Studies; adolescent; Preschool; infant; Newborn; retrospective studies; Acyl-CoA Dehydrogenase/deficiency/genetics; Mutation/genetics; Metabolism; Inborn Errors/complications/diagnosis/genetics
Creator
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Derks TG; Reijngoud DJ; Waterham HR; Gerver WJ; van den Berg MP; Sauer PJ; Smit GP
Description
An account of the resource
OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency. RESULTS: Most patients presented between 3 months and 5.1 years of age; 13% had symptoms as neonates not exclusively related to breast-feeding. An acute presentation before the diagnosis was made resulted in a mortality of 22% (25/114), whereas 21% (19/89) developed disabilities after the diagnosis. On follow-up, a total of 44 patients reported fatigue (35%; 28/80), muscle pain (31%; 25/80), and/or reduced exercise tolerance (39%; 31/80). Cardiac evaluation in 11 adult patients revealed no abnormalities in cardiac function explaining these complaints. Children with MCAD deficiency readily become overweight. CONCLUSIONS: Mortality and morbidity were high in undiagnosed children with MCAD deficiency; establishment of the diagnosis significantly improves outcome. Strikingly, after the diagnosis and initiation of treatment, overweight and chronic complaints (fatigue, muscle pain, and reduced exercise tolerance) were prominent.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.jpeds.2005.12.028" target="_blank" rel="noreferrer">10.1016/j.jpeds.2005.12.028</a>
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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
Acyl-CoA Dehydrogenase/deficiency/genetics
Adolescent
Adult
Backlog
Child
Cohort Studies
Derks TG
Disease Progression
Gerver WJ
Humans
Inborn Errors/complications/diagnosis/genetics
Infant
Journal Article
Longitudinal Studies
Metabolism
Middle Aged
Mutation/genetics
Netherlands
Newborn
Preschool
Prognosis
Reijngoud DJ
Retrospective Studies
Sauer PJ
Severity Of Illness Index
Smit GP
The Journal Of Pediatrics
van den Berg MP
Waterham HR
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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.
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<a href="http://doi.org/10.1056/NEJMp058026" target="_blank" rel="noreferrer">http://doi.org/10.1056/NEJMp058026</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
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The Groningen protocol--euthanasia in severely ill newborns
Publisher
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The New England Journal Of Medicine
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
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Humans; infant; Prognosis; Netherlands; Death and Euthanasia; Practice Guidelines; Newborn; Euthanasia/ethics/legislation & jurisprudence; Intensive Care/ethics/legislation & jurisprudence; Third-Party Consent/legislation & jurisprudence
Creator
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Verhagen E; Sauer PJ
Identifier
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<a href="http://doi.org/10.1056/NEJMp058026" target="_blank" rel="noreferrer">10.1056/NEJMp058026</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
Description
An account of the resource
2005
2005
Backlog
Death and Euthanasia
Euthanasia/ethics/legislation & jurisprudence
Humans
Infant
Intensive Care/ethics/legislation & jurisprudence
Journal Article
Netherlands
Newborn
Practice Guidelines
Prognosis
Sauer PJ
The New England Journal Of Medicine
Third-Party Consent/legislation & jurisprudence
Verhagen E