SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: Case report

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dc.authorid0000-0002-5728-3895en_US
dc.authorid0000-0003-3886-3808en_US
dc.authorid0000-0003-0962-2116en_US
dc.authorid0000-0002-6079-5517en_US
dc.authorid0000-0003-0848-2561en_US
dc.contributor.authorBayrak, Harun
dc.contributor.authorSezer, Abdullah
dc.contributor.authorDanış, Ayşegül
dc.contributor.authorÖzhan, Selen Has
dc.contributor.authorYıldız, Harun
dc.contributor.authorKılıç, Mustafa
dc.date.accessioned2024-02-13T11:06:59Z
dc.date.available2024-02-13T11:06:59Z
dc.date.issued2023en_US
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractSERAC1 (Serine active site-containing 1, MIM: 614725) gene is located on chromosome 6q25.3. SERAC1 protein is a membrane protein containing 654 amino acids. It contains a serine lipase domain and belongs to the PGAG-like protein family, which plays a crucial role in mitochondrial function. SERAC1 protein has a role in intracellular cholesterol and phospholipid trafficking of action [1]. SERAC1 mutations as the cause of MEGD(H)EL syndrome (MIM: 614739) are an autosomal recessive mitochondrial disease associated with 3-methylglutaconic aciduria, dystonia, deafness, (hepatopathy), encephalopathy, with Leigh-like syndrome.en_US
dc.identifier.citationBayrak, H., Sezer, A., Danış, A., Özhan, S. H., Yıldız, H., & Kılıç, M. (2023). SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report. Acta Neurologica Belgica, 1-3.en_US
dc.identifier.doi10.1007/s13760-023-02305-y
dc.identifier.endpage3en_US
dc.identifier.issn0300-9009
dc.identifier.issn2240-2993
dc.identifier.pmid37306826en_US
dc.identifier.scopus2-s2.0-85161688809en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1en_US
dc.identifier.urihttp://dx.doi.org/10.1007/s13760-023-02305-y
dc.identifier.urihttps://hdl.handle.net/20.500.12491/12014
dc.identifier.wosWOS:001007495700001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDanış, Ayşegül
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofActa Neurologica Belgicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject3-MGAen_US
dc.subjectAlpha Fetoproteinen_US
dc.subjectMEGDHELen_US
dc.subjectMitochondrial Diseasesen_US
dc.subjectSERAC1en_US
dc.titleSERAC1 gene mutation presented with markedly alpha fetoprotein elevation: Case reporten_US
dc.typeArticleen_US

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