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 İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 150 Konu: 4
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1016/j.jpeds.2007.01.036
  • Dergi Adı: JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.439-442

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.