Associated Papers
Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.
Kannan B et al.
Molecular Biology Reports, 2024
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Wolf B
Molecular Genetics and Metabolism, 2015
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Raha S et al.
Pediatric Neurology, 2011
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