Glycogen Storage Disease Type IIIa Presenting with Hyperglycemia: A Novel Mutation

Basit Öğe Kaydı
dc.contributor.authorGüneş, Müslüm
dc.contributor.authorTekeş, Selahaddin
dc.contributor.authorŞimşek, Mehmet
dc.contributor.authorGüven, Mehmet
dc.date.accessioned2024-04-24T19:11:49Z
dc.date.available2024-04-24T19:11:49Z
dc.date.issued2020
dc.departmentDicle Üniversitesien_US
dc.description.abstractGlycogen, the storage form of glucose in cells; plays a vital role in cellular function by providing the energy required for most metabolic processes. Defects in glycogen metabolism cause an accumulation of glycogen in the tissues.The glycogen storage diseases were categorized numerically in the order in which the enyzmatic defects were identified. Glycogen storage disease type IIIa is an inherited glyco-gen storage disease that is an autosomal recessive transition affecting liver and muscles. It occurs as a result of mutation in the gene of glyco-gen debranching enzyme (AGL gene). Hypoglycemia is a common condition. In this case, we presented a case of glycogen storage disease type IIIa with a new mutation in the AGL gene presenting with hyperglycemia.en_US
dc.identifier.doi10.5336/caserep.2020-74932
dc.identifier.endpage176en_US
dc.identifier.issn2147-9291
dc.identifier.issue3en_US
dc.identifier.startpage173en_US
dc.identifier.trdizinid410092
dc.identifier.urihttps://doi.org/10.5336/caserep.2020-74932
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/410092
dc.identifier.urihttps://hdl.handle.net/11468/28210
dc.identifier.volume28en_US
dc.indekslendigikaynakTR-Dizin
dc.language.isoenen_US
dc.relation.ispartofTürkiye Klinikleri Journal of Case Reports
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleGlycogen Storage Disease Type IIIa Presenting with Hyperglycemia: A Novel Mutationen_US
dc.titleGlycogen Storage Disease Type IIIa Presenting with Hyperglycemia: A Novel Mutation
dc.typeArticleen_US

Dosyalar

Koleksiyon

TR-Dizin İndeksli Yayınlar Koleksiyonu