Associated Papers
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.
Abdi F et al.
Ophthalmic Genetics, 2024
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Yilmaz S et al.
Metabolic Brain Disease, 2017
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