Fatma Derya Bulut

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals

Tanyel Zübarioğlu, Ertuğrul Kıykım, Engi̇n Köse et al. · Molecular Genetics and Metabolism · 2024 · 19 citations

Medicine, Molecular Medicine, Pathology +6

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey

Berna Şeker Yılmaz, Neslihan Önenli Mungan, Deniz Kör et al. · Journal of Pediatric Endocrinology and Metabolism · 2018 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations

Deniz Kör, Berna Şeker Yılmaz, Fatma Derya Bulut et al. · The Turkish Journal of Pediatrics · 2019 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

Berna Şeker Yılmaz, Deniz Kör, Fatma Derya Bulut et al. · The Turkish Journal of Pediatrics · 2017 · 15 citations · Full text

Life Sciences, Endocrinology, Genetics +17

A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation

Esra Sarıgeçili, Fatma Derya Bulut, Özlem Anlaş · Clinical Neurology and Neurosurgery · 2022 · 13 citations

Life Sciences, Genetics, Neuroscience +17