| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4168715 | The Journal of Pediatrics | 2007 | 4 Pages |
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.
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Authors
Hatice Serap Kalkanoğlu Sivri, Gülsüm Aydan Genç, Ayşegül Tokatlı, Ali Dursun, Turgay Coşkun, Halil İbrahim Aydın, Levent Sennaroğlu, Erol Belgin, Kevin Jensen, Barry Wolf,