Associated Papers
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
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
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
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