Yazar "Ecevit, Ismail Zafer" için listeleme
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Severe isolated sulfide oxidase deficiency with a novel mutation
Ergene, Merit; Yarar, Nuriye; Oncel, Elif Perihan; Sezer, Taner; Cavdarli, Busranur; Ecevit, Ismail Zafer; Aydin, Halil Ibrahim (2021)Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics ...