Triosephosphate isomerase deficiency: A patient with Val231Met mutation

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dc.contributor.authorSerdaroglu G.
dc.contributor.authorAydinok Y.
dc.contributor.authorYilmaz S.
dc.contributor.authorManco L.
dc.contributor.authorÖzer E.
dc.date.accessioned2019-10-27T08:34:03Z
dc.date.available2019-10-27T08:34:03Z
dc.date.issued2011
dc.departmentEge Üniversitesien_US
dc.description.abstractTriosephosphate isomerase deficiency constitutes a rare autosomal recessive disorder, characterized by hemolytic anemia, neurodegeneration, and recurrent bacterial infections. It is the most severe glycolytic enzyme defect associated with progressive neurologic dysfunction. Patients with various inherited triosephosphate isomerase deficiency gene mutations were identified. The most frequent is a Glu104Asp mutation, manifested in homozygous and compound heterozygous states. The mutation Val231Met is very rare. We describe a second triosephosphate isomerase-deficient patient homozygous for the Val231Met mutation, with different phenotypic characteristics from the previous case. © 2011 Elsevier Inc. All rights reserved.en_US
dc.identifier.doi10.1016/j.pediatrneurol.2010.08.016en_US
dc.identifier.endpage142en_US
dc.identifier.issn0887-8994
dc.identifier.issue2en_US
dc.identifier.pmid21215915en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage139en_US
dc.identifier.urihttps://doi.org/10.1016/j.pediatrneurol.2010.08.016
dc.identifier.urihttps://hdl.handle.net/11454/26956
dc.identifier.volume44en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofPediatric Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleTriosephosphate isomerase deficiency: A patient with Val231Met mutationen_US
dc.typeArticleen_US

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