Review
Case Report
A Novel FBXL4 Variant Presenting with Shunt-Dependent Hydrocephalus
Ayşe Nur Altun, Hamza Polat, İkbal Türker, et al.
Published 05.10.2026
Review
Case Report
A Novel CLN1 Variant in a Turkish Patient with Infantile Neuronal Ceroid Lipofuscinoses
Tuğçe Aras Çöl, Seda Güneş, Elif İşler Soylu, et al.
Published 09.06.2026
Review
Original Article
Confirmation and Determination of Urinary Ethylmalonic Acid by Capillary Electrophoresis with Indirect UV Detection
Mehmet Şerif Cansever, Kağan Çalışgan, Ertuğrul Kıykım, et al.
Published 13.03.2026
Original Article
Development and Validation of a Multiplex LC-MS/MS Assay for Lysosphingolipid Quantification in the Diagnosis of Gaucher and Fabry Diseases
Halide Akbaş, Ayşe Ergül Bozacı, Bilge Karatoy Erdem, et al.
Published 12.01.2026
Editorial
Editorial
Nur Arslan
