Infantile systemic hyalinosis with early thyroid dysfunction

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dc.contributor.authorPirgon, Ozgur
dc.contributor.authorAtabek, Mehmet Emre
dc.contributor.authorEsen, H. Hasan
dc.contributor.authorCangul, H.
dc.date.accessioned2020-03-26T17:17:33Z
dc.date.available2020-03-26T17:17:33Z
dc.date.issued2007
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractInfantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissues and organs. We present an 18 month-old girl with infantile systemic hyalinosis and hypothyroidism. Newly diagnosed children with infantile systemic hyalinosis should have thyroid studies as a routine part of diagnostic work-up.en_US
dc.identifier.endpage836en_US
dc.identifier.issn0334-018Xen_US
dc.identifier.issn2191-0251en_US
dc.identifier.issue7en_US
dc.identifier.pmid17849746en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage833en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/21430
dc.identifier.volume20en_US
dc.identifier.wosWOS:000248735000012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWALTER DE GRUYTER GMBHen_US
dc.relation.ispartofJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISMen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectinfantile systemic hyalinosisen_US
dc.subjecthypothyroidismen_US
dc.titleInfantile systemic hyalinosis with early thyroid dysfunctionen_US
dc.typeArticleen_US

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