The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome
Yıl: 2022 Cilt: 47 Sayı: 4 Sayfa Aralığı: 1780 - 1783 Metin Dili: İngilizce DOI: 10.17826/cumj.1170135 İndeks Tarihi: 09-01-2023
The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome
Öz: -
Anahtar Kelime: 7706G˃A missense mutasyonuna sahip ilk yaşayan yenidoğan olgusu: Alpers-Huttenlocher sendromu
Öz: Alpers-Huttenlocher sendromu (AHS) nadir görülen otozomal resesif mitokondriyal DNA deplesyonu hastalığıdır. İlerleyici gelişimsel gerileme, karaciğer dejenerasyonu ve nöbetlerden oluşan klasik klinik triad, bozukluğu tanımlamaya yardımcı olur, ancak çok çeşitli klinik tablolar ortaya çıkabilir. Çocukluk çağında en yaygın mutasyonlar sitokrom c oksidaz Ⅰ ve Ⅳ genlerinde tanımlanmıştır. Cox Ⅱ genindeki 7706G˃A missense mutasyonu daha önce postmortem histolojik çalışma sonrasında bir olguda bildirilmiştir. Sonuç olarak, bizim hastamız Cox Ⅱ geninde 7706G˃A missense mutasyonu olan ve hayattayken AHS tanısı konulan ilk hastadır. 7706G˃A missense mutasyonunun nadir olduğunu ve Alpers-Huttenlocher sendromuna neden olan diğer mutasyonlardan daha ölümcül olabileceğini düşünmekteyiz.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Editöre Mektup Erişim Türü: Erişime Açık
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| APA | Özdemir M, Hamitoglu S, ÖZLÜ F, Yildizdas H, Satar M, GUL MERT G (2022). The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. , 1780 - 1783. 10.17826/cumj.1170135 |
| Chicago | Özdemir Mustafa,Hamitoglu Serif,ÖZLÜ FERDA,Yildizdas Hacer,Satar Mehmet,GUL MERT GULEN The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. (2022): 1780 - 1783. 10.17826/cumj.1170135 |
| MLA | Özdemir Mustafa,Hamitoglu Serif,ÖZLÜ FERDA,Yildizdas Hacer,Satar Mehmet,GUL MERT GULEN The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. , 2022, ss.1780 - 1783. 10.17826/cumj.1170135 |
| AMA | Özdemir M,Hamitoglu S,ÖZLÜ F,Yildizdas H,Satar M,GUL MERT G The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. . 2022; 1780 - 1783. 10.17826/cumj.1170135 |
| Vancouver | Özdemir M,Hamitoglu S,ÖZLÜ F,Yildizdas H,Satar M,GUL MERT G The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. . 2022; 1780 - 1783. 10.17826/cumj.1170135 |
| IEEE | Özdemir M,Hamitoglu S,ÖZLÜ F,Yildizdas H,Satar M,GUL MERT G "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome." , ss.1780 - 1783, 2022. 10.17826/cumj.1170135 |
| ISNAD | Özdemir, Mustafa vd. "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome". (2022), 1780-1783. https://doi.org/10.17826/cumj.1170135 |
| APA | Özdemir M, Hamitoglu S, ÖZLÜ F, Yildizdas H, Satar M, GUL MERT G (2022). The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. Cukurova Medical Journal, 47(4), 1780 - 1783. 10.17826/cumj.1170135 |
| Chicago | Özdemir Mustafa,Hamitoglu Serif,ÖZLÜ FERDA,Yildizdas Hacer,Satar Mehmet,GUL MERT GULEN The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. Cukurova Medical Journal 47, no.4 (2022): 1780 - 1783. 10.17826/cumj.1170135 |
| MLA | Özdemir Mustafa,Hamitoglu Serif,ÖZLÜ FERDA,Yildizdas Hacer,Satar Mehmet,GUL MERT GULEN The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. Cukurova Medical Journal, vol.47, no.4, 2022, ss.1780 - 1783. 10.17826/cumj.1170135 |
| AMA | Özdemir M,Hamitoglu S,ÖZLÜ F,Yildizdas H,Satar M,GUL MERT G The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. Cukurova Medical Journal. 2022; 47(4): 1780 - 1783. 10.17826/cumj.1170135 |
| Vancouver | Özdemir M,Hamitoglu S,ÖZLÜ F,Yildizdas H,Satar M,GUL MERT G The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome. Cukurova Medical Journal. 2022; 47(4): 1780 - 1783. 10.17826/cumj.1170135 |
| IEEE | Özdemir M,Hamitoglu S,ÖZLÜ F,Yildizdas H,Satar M,GUL MERT G "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome." Cukurova Medical Journal, 47, ss.1780 - 1783, 2022. 10.17826/cumj.1170135 |
| ISNAD | Özdemir, Mustafa vd. "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome". Cukurova Medical Journal 47/4 (2022), 1780-1783. https://doi.org/10.17826/cumj.1170135 |
