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
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Cowan TM et al.
Molecular Genetics and Metabolism, 2012
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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