Yazar "Haeberle, Johannes" 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 ... -
Identification of three novel mutations in fourteen patients with citrullinemia type 1
Kose, Engin; Unal, Ozlem; Bulbul, Selda; Gunduz, Mehmet; Haeberle, Johannes; Arslan, Nur (Pergamon-Elsevier Science Ltd, 2017)Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, ...