Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation

H. S.K. Sivri, Gülsüm Aydan Genç, Aythegül Tokatlý, Ali Dursun, Turgay Cothkun, Halil Ýbrahim Aydýn, Levent Sennarolu, Erol Belgin, Kevin Jensen, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)439-442
Number of pages4
JournalJournal of Pediatrics
Issue number4
StatePublished - Apr 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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