Hearing loss in biotinidase deficiency: Genotype-phenotype correlation

Sivri, Hatice; Genc, GÜLSÜM; Tokatly, AYŞEGÜL; DURSUN, ALİ; Copkun, Turgay; Aydyn, Halil; Lu, Levent; Belgin, EROL; Jensen, Kevin; Wolf, Barry

doi:10.1016/j.jpeds.2007.01.036

Hearing loss in biotinidase deficiency: Genotype-phenotype correlation

Sivri H. S. K. L., Genc G. A., Tokatly A., DURSUN A., Copkun T., Aydyn H. Y., ...Daha Fazla

JOURNAL OF PEDIATRICS, cilt.150, sa.4, ss.439-442, 2007 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 150 Sayı: 4
Basım Tarihi: 2007
Doi Numarası: 10.1016/j.jpeds.2007.01.036
Dergi Adı: JOURNAL OF PEDIATRICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.439-442
Hacettepe Üniversitesi Adresli: Evet

Özet

Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have heating loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth.