Clinical characteristics of a Turkish family with congenital erythrocytosis due to an EPOR mutation: Is routine phlebotomy indicated in children and adolescents?

Here we present two siblings, a 9-year-old boy and a 15-year-old girl at presentation, with congenital erythrocytosis due to an EPOR c.1316G>A (p.Trp439Term) mutation. The patients had nausea, abdominal pain, and headache when they presented with hemoglobin levels of 23 g/dL and 19.4 g/dL, respec...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Turk Pediatri Ars
Asıl Yazarlar: Sarper, Nazan, Zengin, Emine, Gelen, Sema Aylan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Kare Publishing 2020
Konular:
Case Report / Olgu Sunumu
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7536457/
https://ncbi.nlm.nih.gov/pubmed/33061762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14744/TurkPediatriArs.2019.65481
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller