Biotinidase deficiency in a four-week-old infant with infantile spasms

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dc.authorscopusid6601956890
dc.authorscopusid14034685800
dc.authorscopusid13405742900
dc.authorscopusid58350868600
dc.authorscopusid6602733795
dc.contributor.authorŞenses, Dursun Ali
dc.contributor.authorŞimşe, Enver
dc.contributor.authorYar, Neşe Ersöz
dc.contributor.authorKeskin, Mahmut
dc.contributor.authorKocabay, Kenan
dc.date.accessioned2024-09-25T19:42:54Z
dc.date.available2024-09-25T19:42:54Z
dc.date.issued2006
dc.departmentAbant İzzet Baysal Üniversitesien_US
dc.description.abstractProfound biotinidase deficiency was diagnosed in a 28-day old infant with seizures-like infantile spasms, alopecia and erythematous rash. Clinical signs improved dramatically with biotine treatment. Clinical features of biotinidase deficiency are discussed.en_US
dc.identifier.endpage124en_US
dc.identifier.issn0010-0161
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-33745780119en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage121en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/12344
dc.identifier.volume49en_US
dc.indekslendigikaynakScopusen_US
dc.language.isotren_US
dc.relation.ispartofCocuk Sagligi ve Hastaliklari Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzYK_20240925en_US
dc.subjectBiotineen_US
dc.subjectBiotinidase deficiencyen_US
dc.subjectInfantile spasmsen_US
dc.titleBiotinidase deficiency in a four-week-old infant with infantile spasmsen_US
dc.title.alternativeİnfantil spazm şeklinde başlangiç gösteren biotinidaz eksikli?i]en_US
dc.typeArticleen_US

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