INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol.71, no.2, pp.333-339, 2007 (SCI-Expanded)
Objective: Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many features of the disorder are reversible following treatment with biotin, the hearing loss appears to be irreversible. In the present study, hearing status of patients with biotinidase deficiency is characterized in a Turkish population.