First manifestation of citrullinemia type I as Sandifer syndrome

We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is th...

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Bibliographic Details
Main Authors: Mustafa Kılıç, Esma Altınel-Açoğlu, Pelin Zorlu, Deniz Yüksel, Selda Bülbül, Johannes Haeberle
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2017-12-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/1055
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