Tetrahydrobiopterin deficiencies: Lesson from clinical experienceAyşe Ergül Bozacı, Mahmut Çöker, Esra Er et al.|JIMD Reports|2021Cited by 16
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutationsFerda Özkınay, Hüseyin Önay, Ayşe Ergül Bozacı et al.|Molecular Genetics and Metabolism Reports|2021Cited by 16
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Şeker Yılmaz, Paul Gissen, Julien Baruteau et al.|Life|2022Cited by 15
Long-term follow-up of alkaptonuria patients: single center experienceAyşe Ergül Bozacı, Mahmut Çöker, Havva Yazıcı et al.|Journal of Pediatric Endocrinology and Metabolism|2022Cited by 3
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic formHavva Yazıcı, Mahmut Çöker, Güneş Ak et al.|Journal of Pediatric Endocrinology and Metabolism|2023Cited by 3