Yazar "Yuksel, Deniz" için listeleme
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First manifestation of citrullinemia type I as Sandifer syndrome
Kilic, Mustafa; Altinel-Acoglu, Esma; Zorlu, Pelin; Yuksel, Deniz; Bulbul, Selda; Haeberle, Johannes (Turkish J Pediatrics, 2017)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 ...