Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria

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dc.contributor.authorKartal, Ayse
dc.contributor.authorAydin, Kursad
dc.date.accessioned2020-03-26T19:23:14Z
dc.date.available2020-03-26T19:23:14Z
dc.date.issued2016
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractAspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.en_US
dc.identifier.doi10.1177/1971400916665371en_US
dc.identifier.endpage313en_US
dc.identifier.issn1971-4009en_US
dc.identifier.issn2385-1996en_US
dc.identifier.issue5en_US
dc.identifier.pmid27549151en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage310en_US
dc.identifier.urihttps://dx.doi.org/10.1177/1971400916665371
dc.identifier.urihttps://hdl.handle.net/20.500.12395/33319
dc.identifier.volume29en_US
dc.identifier.wosWOS:000384443500003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSAGE PUBLICATIONS INCen_US
dc.relation.ispartofNEURORADIOLOGY JOURNALen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAspartylglucosaminuriaen_US
dc.subjectlysosomal storage disorderen_US
dc.subjectbrain MRIen_US
dc.titleBrain MRI findings in two Turkish pediatric patients with aspartylglucosaminuriaen_US
dc.typeArticleen_US

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