Yazar "Çakar, Nafiye Emel" için listeleme
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A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Aksu Uzunhan, Tuğçe; Çakar, Nafiye Emel; Seyhan, Serhat; Aydın, Kürşad (Elsevier, 2020)Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ... -
Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene
Çakar, Nafiye Emel; Seyhan, Serhat (ASEAN Neurological Association, 2020)Nonketotic hyperglycinemia (NKH) is caused by defects in the glycine cleavage system. Hyperglycinemia without biallelic mutations in one of the 4 genes that encode the constituents of the glycine cleavage system is classified ...