Transcobalamin II Deficiency in Four Cases with Novel Mutations
Yıl: 2015 Cilt: 32 Sayı: 4 Sayfa Aralığı: 317 - 322 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022
Transcobalamin II Deficiency in Four Cases with Novel Mutations
Öz: Amaç: Transkobalamin II eksikliği nadir bir kalıtsal B12 vitamini bozukluğudur. Defektin B12 vitamininin transportu ile ilgili olması nedeniyle hastalar normal ya da yüksek B12 vitamini düzeylerine eşlik eden yüksek homosistein ve metilmalonik asit düzeylerine sahiptir.Gereç ve Yöntemler: Bu çalışmada transkobalamin II eksikliği tanısı alan dört hasta sunulmuştur. Bu hastalarda daha önce bildirilmemiş yeni mutasyonlar saptanmıştır. Bulgular: Hastaların ikisinde aynı büyük delesyon olduğu görülmüştür (homozigot c.1106+1516-1222+1231del). Sonuç: Pansitopeni, büyüme geriliği, ishal ya da kusması olan tüm bebeklerde transcobalamin II eksikliği ayırıcı tanıda düşünülmelidir
Anahtar Kelime: Konular:
Yeni Mutasyonu Olan Dört Transkobalamin II Eksikliği Olgusu
Öz: Objective: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. Materials and Methods: Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations.Results: These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del). Conclusion: Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and vomiting
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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| APA | ÜNAL CANGÜL Ş, RUPAR T, YETGİN S, YARALI H, Dursun A, gürsel t, ÇETIN M (2015). Transcobalamin II Deficiency in Four Cases with Novel Mutations. , 317 - 322. |
| Chicago | ÜNAL CANGÜL Şule,RUPAR Tony,YETGİN Sevgi,YARALI HÜSNİYE NEŞE,Dursun Ali,gürsel türkiz,ÇETIN MUALLA Transcobalamin II Deficiency in Four Cases with Novel Mutations. (2015): 317 - 322. |
| MLA | ÜNAL CANGÜL Şule,RUPAR Tony,YETGİN Sevgi,YARALI HÜSNİYE NEŞE,Dursun Ali,gürsel türkiz,ÇETIN MUALLA Transcobalamin II Deficiency in Four Cases with Novel Mutations. , 2015, ss.317 - 322. |
| AMA | ÜNAL CANGÜL Ş,RUPAR T,YETGİN S,YARALI H,Dursun A,gürsel t,ÇETIN M Transcobalamin II Deficiency in Four Cases with Novel Mutations. . 2015; 317 - 322. |
| Vancouver | ÜNAL CANGÜL Ş,RUPAR T,YETGİN S,YARALI H,Dursun A,gürsel t,ÇETIN M Transcobalamin II Deficiency in Four Cases with Novel Mutations. . 2015; 317 - 322. |
| IEEE | ÜNAL CANGÜL Ş,RUPAR T,YETGİN S,YARALI H,Dursun A,gürsel t,ÇETIN M "Transcobalamin II Deficiency in Four Cases with Novel Mutations." , ss.317 - 322, 2015. |
| ISNAD | ÜNAL CANGÜL, Şule vd. "Transcobalamin II Deficiency in Four Cases with Novel Mutations". (2015), 317-322. |
| APA | ÜNAL CANGÜL Ş, RUPAR T, YETGİN S, YARALI H, Dursun A, gürsel t, ÇETIN M (2015). Transcobalamin II Deficiency in Four Cases with Novel Mutations. Turkish Journal of Hematology, 32(4), 317 - 322. |
| Chicago | ÜNAL CANGÜL Şule,RUPAR Tony,YETGİN Sevgi,YARALI HÜSNİYE NEŞE,Dursun Ali,gürsel türkiz,ÇETIN MUALLA Transcobalamin II Deficiency in Four Cases with Novel Mutations. Turkish Journal of Hematology 32, no.4 (2015): 317 - 322. |
| MLA | ÜNAL CANGÜL Şule,RUPAR Tony,YETGİN Sevgi,YARALI HÜSNİYE NEŞE,Dursun Ali,gürsel türkiz,ÇETIN MUALLA Transcobalamin II Deficiency in Four Cases with Novel Mutations. Turkish Journal of Hematology, vol.32, no.4, 2015, ss.317 - 322. |
| AMA | ÜNAL CANGÜL Ş,RUPAR T,YETGİN S,YARALI H,Dursun A,gürsel t,ÇETIN M Transcobalamin II Deficiency in Four Cases with Novel Mutations. Turkish Journal of Hematology. 2015; 32(4): 317 - 322. |
| Vancouver | ÜNAL CANGÜL Ş,RUPAR T,YETGİN S,YARALI H,Dursun A,gürsel t,ÇETIN M Transcobalamin II Deficiency in Four Cases with Novel Mutations. Turkish Journal of Hematology. 2015; 32(4): 317 - 322. |
| IEEE | ÜNAL CANGÜL Ş,RUPAR T,YETGİN S,YARALI H,Dursun A,gürsel t,ÇETIN M "Transcobalamin II Deficiency in Four Cases with Novel Mutations." Turkish Journal of Hematology, 32, ss.317 - 322, 2015. |
| ISNAD | ÜNAL CANGÜL, Şule vd. "Transcobalamin II Deficiency in Four Cases with Novel Mutations". Turkish Journal of Hematology 32/4 (2015), 317-322. |
