Associated Papers
Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.
Ünlü Torlak E et al.
International Journal of Molecular Sciences, 2026
Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.
Ibrahim FE et al.
Biomedicines, 2025
41007772 (PubMed )
Supplement: biomedicines-13-02210-s001.zip › biomedicines-3684120_BTD_Table_S1.xlsx › SNPs
Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.
Yarali O et al.
Journal of Neurogenetics, 2024
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
Yılmaz B et al.
European Journal of Pediatrics, 2024
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Al-Eitan LN et al.
Journal of Personalized Medicine, 2020
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