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Pericardial effusion in primary systemic carnitine deficiency.

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dc.contributor.authorDuangrurdee Wattanasirichaigoonen_US
dc.contributor.authorPongsak Khowsathiten_US
dc.contributor.authorAnannit Visudtibhanen_US
dc.contributor.authorUmaporn Suthutvoravuten_US
dc.contributor.authorDussadee Charoenpipopen_US
dc.contributor.authorSook Z. Kimen_US
dc.contributor.authorHarvey L. Levyen_US
dc.contributor.authorVivian E. Shihen_US
dc.contributor.otherMahidol Universityen_US
dc.date.accessioned2018-08-20T06:53:35Z
dc.date.available2018-08-20T06:53:35Z
dc.date.issued2006-01-01en_US
dc.description.abstractA patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient.en_US
dc.identifier.citationJournal of inherited metabolic disease. Vol.29, No.4 (2006), 589en_US
dc.identifier.doi10.1007/s10545-006-0335-7en_US
dc.identifier.issn15732665en_US
dc.identifier.other2-s2.0-79959329233en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/123456789/23107
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79959329233&origin=inwarden_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.subjectMedicineen_US
dc.titlePericardial effusion in primary systemic carnitine deficiency.en_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79959329233&origin=inwarden_US

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