A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation

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dc.contributor.authorApa H.
dc.contributor.authorKayserili E.
dc.contributor.authorAgin H.
dc.contributor.authorHizarcioglu M.
dc.contributor.authorGulez P.
dc.contributor.authorBerdeli A.
dc.date.accessioned2019-10-26T23:57:28Z
dc.date.available2019-10-26T23:57:28Z
dc.date.issued2008
dc.departmentEge Üniversitesien_US
dc.description.abstractAn offspring of marriage between two first cousins presented with atonic seizures developed on the 20th day of life. The physical examination of the case was normal. In laboratory results, Ca+2 level was 5,7 mg/dl, Mg+2: 0,4 mg/dl (1,3-2,1), PTH: 28,4 pg/ml (12-92), and P-: 4,5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X. © 2008 Dr. K C Chaudhuri Foundation.en_US
dc.identifier.doi10.1007/s12098-008-0121-7en_US
dc.identifier.endpage634en_US
dc.identifier.issn0019-5456
dc.identifier.issue6en_US
dc.identifier.pmid18759094en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage632en_US
dc.identifier.urihttps://doi.org/10.1007/s12098-008-0121-7
dc.identifier.urihttps://hdl.handle.net/11454/21027
dc.identifier.volume75en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofIndian Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypocalcemiaen_US
dc.subjectMagnesium-Hypomagnesemiaen_US
dc.subjectSeizureen_US
dc.subjectTRPM6en_US
dc.titleA case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutationen_US
dc.typeArticleen_US

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