Kilic, MustafaAltinel-Acoglu, EsmaZorlu, PelinYuksel, DenizBulbul, SeldaHaeberle, Johannes2020-06-252020-06-252017Kılıç, M., Altınel-Açoğlu, E., Zorlu, P., Yüksel, D., Bülbül, S., & Haeberle, J. (2017). First manifestation of citrullinemia type I as Sandifer syndrome. The Turkish journal of pediatrics, 59(6), 696–698.0041-4301https://doi.org/10.24953/turkjped.2017.06.013https://hdl.handle.net/20.500.12587/6835We 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 the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.eninfo:eu-repo/semantics/openAccesscitrullinemia type ISandifer syndromehyperammonemiavomitingArticle59669669810.24953/turkjped.2017.06.0132-s2.0-8507730256030035404Q3WOS:000438382300013Q4