Associated Papers
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.
Abdi F et al.
Ophthalmic Genetics, 2024
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Funghini S et al.
Molecular Genetics and Metabolism Reports, 2020
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].
Senanayake DN et al.
Molecular Genetics and Metabolism Reports, 2017
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Bottin L et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2015
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
Senanayake DN et al.
Molecular Genetics and Metabolism Reports, 2015
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