Associated Papers
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
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Seker Yilmaz B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.
Yaralı O et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 0
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