Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations
Fehime Erdem(Ege University), Mahmut Çöker(Ege University), Merve Saka Güvenç, Rabia ALAY ESER(Ege University), Havva Yazıcı(Ege University), Sema Kalkan Uçar(Ege University), Eser Yıldırım Sözmen(Izmir University), Ebru Canda(Ege University), İpek Tamsel(Ege University), Merve Yoldaş Çelik(Ege University), Hüseyin Önay(Austen Riggs Center), Selcan Keşan(Izmir University), Tahir Atık(Ege University)
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