Two novel mutations in acid alpha-glucosidase gene in two patients with Pompe disease

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dc.contributor.authorAykut, Ayca
dc.contributor.authorOnay, Huseyin
dc.contributor.authorKose, Melis
dc.contributor.authorCanda, Ebru Erbas
dc.contributor.authorKaraca, Emin
dc.contributor.authorCoker, Mahmut
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T22:12:37Z
dc.date.available2019-10-27T22:12:37Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractPompe disease is an autosomal recessive lysosomal glycogen storage disorder (GSD) caused by acid alpha-glucosidase (GAA) deficiency. Pompe disease has a broad genotypic and phenotypic spectrum. The infantile-onset form is the most severe form and presents with hypotonia and cardiomyopathy in early infancy. The probands who died were found to have GSD type II based on clinical and biochemical findings. We report two families with Pompe disease in whom the parents' molecular analysis revealed two novel mutations: c.2045A>G (p.Q682R) and c.763C>T (p.Q255X).en_US
dc.identifier.doi10.1515/jpem-2014-0107en_US
dc.identifier.endpage1267en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue11.Decen_US
dc.identifier.pmid25026126en_US
dc.identifier.startpage1265en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2014-0107
dc.identifier.urihttps://hdl.handle.net/11454/49522
dc.identifier.volume27en_US
dc.identifier.wosWOS:000345022900040en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGAA geneen_US
dc.subjectglycogen storage disease type IIen_US
dc.subjectnovel mutationen_US
dc.titleTwo novel mutations in acid alpha-glucosidase gene in two patients with Pompe diseaseen_US
dc.typeArticleen_US

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