F. D. Bulut

GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations

Özge Özalp Yüreğir, B. Gürbüz, Esra Sarigecili, 2021 .

Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

B. Bax, C. Eraslan, H. Onay, 2022, JIMD Reports.

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Sevcan Erdem, H. Balli, S. Başaran, 2021, Orphanet Journal of Rare Diseases.

Can untreated PKU patients escape from intellectual disability? A systematic review

A. Federico, C. V. van Karnebeek, C. Hollak, 2018, Orphanet Journal of Rare Diseases.

An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency

N. Mungan, A. Bayazıt, F. Bulut, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

D. Kör, S. Ceylaner, S. Kılavuz, 2018, Metabolic Brain Disease.

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

D. Kör, S. Ceylaner, B. Şeker Yılmaz, 2021, Turkish journal of medical sciences.