Infantile systemic hyalinosis with early thyroid dysfunction

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dc.contributor.authorPirgon, Özgür
dc.contributor.authorAtabek, Mehmet Emre
dc.contributor.authorEsen, Hasan H.
dc.contributor.buuauthorCangül, Hakan
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.scopusid8911611600tr_TR
dc.date.accessioned2024-03-08T11:06:32Z
dc.date.available2024-03-08T11:06:32Z
dc.date.issued2007-07
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.citationPirgon, Ö. vd. (2007). "Infantile systemic hyalinosis with early thyroid dysfunction". Journal of Pediatric Endocrinology and Metabolism, 20(7), 833-836.en_US
dc.identifier.doihttps://doi.org/10.1515/JPEM.2007.20.7.833en_US
dc.identifier.eissn2191-0251
dc.identifier.endpage836tr_TR
dc.identifier.issn0334-018X
dc.identifier.issue7tr_TR
dc.identifier.pubmed17849746tr_TR
dc.identifier.scopus2-s2.0-34548252301tr_TR
dc.identifier.startpage833tr_TR
dc.identifier.urihttps://www.degruyter.com/document/doi/10.1515/JPEM.2007.20.7.833/htmlen_US
dc.identifier.urihttps://hdl.handle.net/11452/40302en_US
dc.identifier.volume20tr_TR
dc.identifier.wos000248735000012tr_TR
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.journalJournal of Pediatric Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypothyroidismen_US
dc.subjectInfantile systemic hyalinosisen_US
dc.subjectFibromatosisen_US
dc.subjectMutationsen_US
dc.subjectEndocrinology & metabolismen_US
dc.subjectPediatricsen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeBone radiographyen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChilden_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeDiet therapyen_US
dc.subject.emtreeEchographyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFibromatosisen_US
dc.subject.emtreeGene deletionen_US
dc.subject.emtreeHistopathologyen_US
dc.subject.emtreeHomozygosityen_US
dc.subject.emtreeHormone substitutionen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman tissueen_US
dc.subject.emtreeHypothyroidismen_US
dc.subject.emtreeMalnutritionen_US
dc.subject.emtreeMuscle biopsyen_US
dc.subject.emtreeMutational analysisen_US
dc.subject.emtreeOsteopeniaen_US
dc.subject.emtreePhysical examinationen_US
dc.subject.emtreeProtein blood levelen_US
dc.subject.emtreeSkin biopsyen_US
dc.subject.emtreeSkin examinationen_US
dc.subject.emtreeStop codonen_US
dc.subject.emtreeThyroid function testen_US
dc.subject.emtreeZinc blood levelen_US
dc.subject.emtreeCapillary morphogenesis protein 2en_US
dc.subject.emtreeGene producten_US
dc.subject.emtreeLiothyronineen_US
dc.subject.emtreeProteinen_US
dc.subject.emtreeThyroid hormoneen_US
dc.subject.emtreeThyrotropinen_US
dc.subject.emtreeThyroxineen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeZincen_US
dc.subject.scopusCase Report; Gingiva Hypertrophy; Anthrax Toxin Receptorsen_US
dc.subject.wosEndocrinology & metabolismen_US
dc.subject.wosPediatricsen_US
dc.titleInfantile systemic hyalinosis with early thyroid dysfunctionen_US
dc.typeArticleen_US
dc.wos.quartileQ4 (Endocrinology & metabolism)en_US
dc.wos.quartileQ3 (Pediatrics)en_US

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