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dc.contributor.authorŞimşek, Sadullah
dc.contributor.authorHattapoğlu, Salih
dc.contributor.authorEkici, Faysal
dc.date.accessioned2022-06-22T06:24:43Z
dc.date.available2022-06-22T06:24:43Z
dc.date.issued2021en_US
dc.identifier.citationŞimşek, S., Hattapoğlu, S. ve Ekici, F. (2021). Value of magnetic resonance spectroscopy for diagnosis of creatine deficiency syndrome. Journal of Pediatric Neurology, Early Access.en_US
dc.identifier.issn1304-2580
dc.identifier.issn1875-9041
dc.identifier.urihttps://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1726311
dc.identifier.urihttps://hdl.handle.net/11468/10054
dc.descriptionWOS:000633691200001
dc.description.abstractCreatine deficiency syndromes are congenital metabolic diseases characterized by decreased cerebral creatine levels as a result of disorders in creatine synthesis and transport. Therefore, magnetic resonance spectroscopy is a valuable tool for diagnosis. This disease can be explained by congenital disorders occurring in three forms at different stages of the creatine metabolic pathway. Two of disorders arise autosomal recessively in creatine biosynthesis, arginine-glycine amidinotransferase, and guanidinoacetate methyltransferase enzyme deficiency. The third disorder occurs as a result of an SLC6A8 variant in the form of creatine carrier protein deficiency. In this article, a patient with SLC6A8 carrier deficiency is presented.en_US
dc.language.isoengen_US
dc.publisherGeorg Thieme Verlag KGen_US
dc.relation.isversionof10.1055/s-0041-1726311en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCreatineen_US
dc.subjectDeficiencyen_US
dc.subjectBrainen_US
dc.subjectSLC6A8en_US
dc.subjectMRSen_US
dc.titleValue of magnetic resonance spectroscopy for diagnosis of creatine deficiency syndromeen_US
dc.typearticleen_US
dc.identifier.volumeEarly Accessen_US
dc.relation.journalJournal of Pediatric Neurologyen_US
dc.contributor.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Radyoloji Ana Bilim Dalıen_US
dc.contributor.authorID0000-0002-8322-7475en_US
dc.contributor.authorID0000-0003-4781-9729en_US
dc.contributor.authorID0000-0002-4293-1335en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.contributor.institutionauthorŞimşek, Sadullah
dc.contributor.institutionauthorHattapoğlu, Salih
dc.contributor.institutionauthorEkici, Faysal


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