Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye
Turk J Pediatr. 2024 Nov 16;66(5):608-617. doi: 10.24953/turkjpediatr.2024.5075. ABSTRACT BACKGROUND: Biotin is a water-soluble vitamin that plays a key role in carboxylation. The formation of …