Audiologic findings in children with biotinidase deficiency in Turkey


Genc G. A. , Sivri-Kalkanoglu H. S. , Dursun A., Aydin H. I. , Tokatli A., Sennaroglu L., ...Daha Fazla

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.71, sa.2, ss.333-339, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 71 Konu: 2
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1016/j.ijporl.2006.11.001
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Sayfa Sayıları: ss.333-339

Özet

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.