| Literature DB >> 17382128 |
Hatice Serap Kalkanoğlu Sivri1, Gülsüm Aydan Genç, Ayşegül Tokatli, Ayşegül Tokatlý, Ali Dursun, Turgay Coşkun, Halil Ibrahim Aydin, Halil Ybrahim Aydýn, Levent Sennaroğlu, Erol Belgin, Kevin Jensen, Barry Wolf.
Abstract
Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have hearing 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.Entities:
Mesh：
Year: 2007 PMID： 17382128 DOI： 10.1016/j.jpeds.2007.01.036
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406