First manifestation of citrullinemia type I as Sandifer syndrome
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Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish J Pediatrics
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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 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.
Açıklama
Anahtar Kelimeler
citrullinemia type I, Sandifer syndrome, hyperammonemia, vomiting
Kaynak
Turkish Journal Of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
59
Sayı
6
Künye
Kılıç, 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.
