Associated Papers
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
Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.
Kannan B et al.
Molecular Biology Reports, 2024
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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