| Cognitive outcome in urea cycle disorders. | |
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MedLine Citation:
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PMID: 15050975 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Despite treatment, cognitive and motor deficits are common in individuals with inherited urea cycle disorders. However, the extent to which the deficits involve specific cognitive or sensorimotor domains is unknown. Furthermore, little is known about the neurochemical basis of cognitive impairment in these disorders. This paper reviews studies of cognitive and motor dysfunction in urea cycle disorders, and discusses potential venues for investigation of the underlying neural basis that may elucidate these defects. Such methods of investigation may serve as a model for studying the relationship between genes, biochemical markers, brain function, and behavior in other metabolic diseases. |
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Authors:
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Andrea L Gropman; Mark L Batshaw |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 81 Suppl 1 ISSN: 1096-7192 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2004 Apr |
Date Detail:
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Created Date: 2004-03-30 Completed Date: 2005-02-16 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: S58-62 Citation Subset: IM |
Affiliation:
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Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010-2916, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Age of Onset Child Cognition Disorders / metabolism* Female Humans Hyperammonemia / complications Male Mental Retardation / etiology Ornithine Carbamoyltransferase Deficiency Disease / complications*, genetics Urea / metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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HD 93004677/HD/NICHD NIH HHS; K12 RR17613/RR/NCRR NIH HHS; M01 RR13297/RR/NCRR NIH HHS; U54 RR019453/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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57-13-6/Urea |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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