Associated Papers
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S et al.
Molecular Genetics and Metabolism, 2015
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Swango KL et al.
Human Genetics, 1998
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