Konu "Sandifer syndrome" için Tıp Fakültesi listeleme
Toplam kayıt 1, listelenen: 1-1
-
First manifestation of citrullinemia type I as Sandifer syndrome
(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 ...