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
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi FA et al.
Jimd Reports, 2016
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Cowan TM et al.
Molecular Genetics and Metabolism, 2012
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
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