Associated Papers
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.
Abdi F et al.
Ophthalmic Genetics, 2024
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
Forny P et al.
Journal of Inherited Metabolic Disease, 2022
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.
Van Iseghem V et al.
Multiple Sclerosis and Related Disorders, 2019
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Wolf B
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Wolf B et al.
The Journal of Pediatrics, 2002
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
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