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
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Wolf B et al.
Human Mutation, 2005
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Sharma R et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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