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) identifier identifier identifier

  • 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.