| Fumarate hydratase deficiency in monozygotic twins. | |
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MedLine Citation:
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PMID: 16876016 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Monozygotic twins with fumarate hydratase deficiency presenting with profound hypotonia and developmental delay are reported. This rare organic aciduria has been previously described in random case reports, although, to our knowledge, these are the first reported monozygotic twins and gene testing revealed a novel mutation in both. During their course, one of the twins also developed acute pancreatitis, which has not been previously described in association with this particular organic aciduria. |
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Authors:
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Tonya M Phillips; James B Gibson; Dale A Ellison |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 35 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2006 Aug |
Date Detail:
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Created Date: 2006-07-31 Completed Date: 2006-10-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 150-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of Neurology, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA. tonya.phillips@cchmc.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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genetics*,
pathology Brain / pathology Diseases in Twins / genetics*, pathology Female Fumarate Hydratase / deficiency* Humans Infant Mutation / genetics* Twins, Monozygotic* |
| Chemical | |
Reg. No./Substance:
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EC 4.2.1.2/Fumarate Hydratase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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