Congenital disorder of glycosylation type II: Case report

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dc.authoridCANBAY DURMAZ, SEVDA/0000-0002-7792-5306
dc.contributor.authorDurmaz, Sevda Canbay
dc.contributor.authorOzbag, Davut
dc.contributor.authorSolgun, Selma
dc.contributor.authorCanbay, Ali
dc.contributor.authorTanriverdi, Cem Gurkan
dc.date.accessioned2024-08-04T20:57:31Z
dc.date.available2024-08-04T20:57:31Z
dc.date.issued2021
dc.departmentİnönü Üniversitesien_US
dc.description.abstractCongenital disorder of glycosylation (CDG) is an inherited metabolic disease characterized by defects in the synthesis of glycan groups of glycoproteins and glycolipids. In this study, we present the clinical, pathological and physical evaluation of a 10-year-old female patient who is still alive and has been diagnosed with CDG type 2, accompanied by musculoskeletal, heart, liver, lung involvement, vision and hearing problems, dysmorphic facial findings, as well as the affected central nerve system. The necessary measures were taken considering all possibilities and the fact that she did not have a clear diagnosis at a very early age and was diagnosed after a comprehensive evaluation. In particular, the physical treatment process, which started at a very early age, substantially prevented the delayed musculoskeletal, respiratory and circulatory problems by extending over a period of time. In this context, we think that our case is rare in the literature.en_US
dc.identifier.doi10.4328/ACAM.20376
dc.identifier.endpage348en_US
dc.identifier.issn2667-663X
dc.identifier.issue3en_US
dc.identifier.startpage345en_US
dc.identifier.urihttps://doi.org/10.4328/ACAM.20376
dc.identifier.urihttps://hdl.handle.net/11616/102693
dc.identifier.volume12en_US
dc.identifier.wosWOS:000645102100024en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherBayrakol Medical Publisheren_US
dc.relation.ispartofAnnals of Clinical and Analytical Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCongenital disorder of glycosylation (CDG)en_US
dc.subjectMetabolic diseaseen_US
dc.subjectPediatricsen_US
dc.subjectGeneticsen_US
dc.titleCongenital disorder of glycosylation type II: Case reporten_US
dc.typeArticleen_US

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