Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

por Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih
Publicado 2023

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

por ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ MUNGAN, Halise Neslihan
Publicado 2021