Audiologic findings in children with biotinidase deficiency in Turkey

Genc, G.; Sivri-Kalkanoglu, H.; Dursun, A.; Aydin, H.; Tokatli, AYŞEGÜL; Sennaroglu, L.; Belgin, E.; Wolf, B.; Coskun, T.

doi:10.1016/j.ijporl.2006.11.001

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-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 71 Sayı: 2
Basım Tarihi: 2007
Doi Numarası: 10.1016/j.ijporl.2006.11.001
Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.333-339
Hacettepe Üniversitesi Adresli: Evet

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.