Associated Papers
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink RC et al.
European Journal of Human Genetics : Ejhg, 2016
Profound biotinidase deficiency: a rare disease among native Swedes.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 2010
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Milánkovics I et al.
Molecular Genetics and Metabolism, 2007
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
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