Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings

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dc.contributor.authorPeru, Harun
dc.contributor.authorAkin, Fatih
dc.contributor.authorElmas, Sefika
dc.contributor.authorElmaci, Ahmet Midhat
dc.contributor.authorKonrad, Martin
dc.date.accessioned2020-03-26T17:26:55Z
dc.date.available2020-03-26T17:26:55Z
dc.date.issued2008
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.en_US
dc.identifier.doi10.1007/s00467-008-0758-5en_US
dc.identifier.endpage1012en_US
dc.identifier.issn0931-041Xen_US
dc.identifier.issue6en_US
dc.identifier.pmid18253757en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1009en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s00467-008-0758-5
dc.identifier.urihttps://hdl.handle.net/20.500.12395/22413
dc.identifier.volume23en_US
dc.identifier.wosWOS:000255413700022en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGERen_US
dc.relation.ispartofPEDIATRIC NEPHROLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectclaudin-16en_US
dc.subjectFHHNCen_US
dc.subjectrenal tubular disorderen_US
dc.titleFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblingsen_US
dc.typeArticleen_US

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