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
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Wolf B
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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