First manifestation of citrullinemia type I as Sandifer syndrome

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dc.contributor.authorKilic, Mustafa
dc.contributor.authorAltinel-Acoglu, Esma
dc.contributor.authorZorlu, Pelin
dc.contributor.authorYuksel, Deniz
dc.contributor.authorBulbul, Selda
dc.contributor.authorHaeberle, Johannes
dc.date.accessioned2020-06-25T18:22:37Z
dc.date.available2020-06-25T18:22:37Z
dc.date.issued2017
dc.departmentKırıkkale Üniversitesi
dc.description.abstractWe report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.en_US
dc.identifier.citationKılıç, M., Altınel-Açoğlu, E., Zorlu, P., Yüksel, D., Bülbül, S., & Haeberle, J. (2017). First manifestation of citrullinemia type I as Sandifer syndrome. The Turkish journal of pediatrics, 59(6), 696–698.en_US
dc.identifier.doi10.24953/turkjped.2017.06.013
dc.identifier.endpage698en_US
dc.identifier.issn0041-4301
dc.identifier.issue6en_US
dc.identifier.pmid30035404
dc.identifier.scopus2-s2.0-85077302560
dc.identifier.scopusqualityQ3
dc.identifier.startpage696en_US
dc.identifier.urihttps://doi.org/10.24953/turkjped.2017.06.013
dc.identifier.urihttps://hdl.handle.net/20.500.12587/6835
dc.identifier.volume59en_US
dc.identifier.wosWOS:000438382300013
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal Of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectcitrullinemia type Ien_US
dc.subjectSandifer syndromeen_US
dc.subjecthyperammonemiaen_US
dc.subjectvomitingen_US
dc.titleFirst manifestation of citrullinemia type I as Sandifer syndromeen_US
dc.typeArticle

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