In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.
📌 3 Key Takeaways
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Objective & Hypothesis:Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation.
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Key Findings & Data:Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation.
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Conclusion & Impact:In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.
🔬Design:Research Article
📍Scope:2010-2014 Verileri
⚙️Variables:Domain Parameters
Abstract
Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.
Özet
Üre döngüsü bozukluğu hiperamonyemi ile seyreden ve ciddi nörolojik sekeller, nöbetler, psikomotor retardasyona neden olabilen bir grup hastalıktır. Bu çalışmada 2010-2014 yıllarında yenidoğan döneminde tanı alan dördü sitrülinemi Tip I, ikisi argininosüksinik asidüri olmak üzere altı üre döngü bozukluğu olgusunun klinik seyri ve tedavi yanıtları sunulmuştur.
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Cite This Article
ÇELİK, K., TEREK, D., OLUKMAN, Ö., KAĞNICI, M., GÖZMEN, Ş. K., SERDAROĞLU, E., ÇALKAVUR, Ş., ARSLANOĞLU, S. (2017). Yenidoğanlarda Üre Döngüsü Bozukluğu: Altı Olgu Sunumu. The Journal of Pediatric Research, Cilt: 4 - Sayı: 2, 85–89. https://ajindex.com/articles/362926
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