Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

by Pembe Soylu Ustkoyuncu, Songül Gokay, Esra Eren, Durmus Dogan, Gokce Yıldız, Aysegul Yılmaz, Fatma Turkan Mutlu
Published 2020-12-01

Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy

by Pembe Soylu Üstkoyuncu, Ahmet Sami Güven, Hatice Gamze Poyrazoğlu, Songül Gökay, Fatih Kardaş, Mustafa Kendirci, İkbal Gökçek, Yasemin Altuner Torun
Published 2019-09-01

A Rare Cause of Spasticity and Microcephaly: Argininemia

by Pembe Soylu Üstkoyuncu, Mustafa Kendirci, Songül Gökay, Fatih Kardaş, Hakan Gümüş, Hüseyin Per, Hatice Gamze Poyrazoğlu, Ayşe Kaçar Bayram, Mehmet Canpolat, Sefer Kumandaş
Published 2020-09-01