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
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Carvalho NO et al.
Journal of Medical Screening, 2020
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
Carvalho NO et al.
American Journal of Medical Genetics. Part A, 2019
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.
Lara MT et al.
Jimd Reports, 2015
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