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Yapay Zeka Hızlı Bakış & Çıkarımlar
AI Insight⚡ TL;DR(1 Cümlede Hızlı Çıkarım)
We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue.
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Temel Bulgular & Veri:Elevated levels of sialooligosaccharides in the urine is characteristic.
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Sonuç & Katkı:We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Abstract
Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is characteristic. We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis.
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Bu Makaleye Atıf Yap
OVALI, F., AKDENİZ, C., PETORAK, İ., SAMANCI, N., GÜRAY, A., AKDOĞAN, Z., DAĞOĞLU, T. (2022). Congenital sialidosis. Turkish Journal of Pediatrics, Cilt: 40 - Sayı: 3, 447–451. https://ajindex.com/articles/613512