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dc.contributor.authorErsoy, Melikeen_US
dc.contributor.authorAkyol, Mehmet Bediren_US
dc.contributor.authorCeylaner, Serdaren_US
dc.contributor.authorBiçer Çakır, Nihanen_US
dc.date.accessioned2019-07-23T13:08:41Z
dc.date.available2019-07-23T13:08:41Z
dc.date.issued2017en_US
dc.identifier.citationErsoy, M., Akyol, M. B., Ceylaner, S., & Bicer, C. N. (2017). A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case. Clinical Case Reports, 5(8), 1284-1288. doi:10.1002/ccr3.1013en_US
dc.identifier.issn2050-0904
dc.identifier.urihttps://hdl.handle.net/20.500.12294/1587
dc.descriptionBiçer Çakır, Nihan (Arel Author)en_US
dc.description.abstractKey Clinical Message We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both cardiac and neurologic involvements were mild when compared to previously reported cases, and see low-fat/high-carbohydrate diet treatment is highly effective.en_US
dc.language.isoengen_US
dc.publisherWileyen_US
dc.relation.ispartofClinical Case Reportsen_US
dc.identifier.doi10.1002/ccr3.1013en_US
dc.identifier.doi10.1002/ccr3.1013
dc.rightsAttribution 3.0 United States*
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subjectDiet Therapyen_US
dc.subjectMalonyl-CoA Decarboxylase Deficiencyen_US
dc.subjectMLYCD Geneen_US
dc.subjectNoncompaction Cardiomyopathyen_US
dc.titleA novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed caseen_US
dc.typearticleen_US
dc.departmentSağlık Bilimleri Yüksekokulu, Beslenme ve Diyetetik Bölümüen_US
dc.authorid0000-0002-7581-9083en_US
dc.identifier.volume5en_US
dc.identifier.issue8en_US
dc.identifier.startpage1284en_US
dc.identifier.endpage1288en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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