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
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
Benn P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
Yılmaz B et al.
European Journal of Pediatrics, 2024
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