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J Pediatr. 2007 Apr;150(4):439-42.

Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

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1
Hacettepe University, Department of Pediatrics, Nutrition & Metabolism Unit, Ankara, Turkey.

Erratum in

  • J Pediatr. 2007 Aug;151(2):222. Tokatlý, Ayşegül [corrected to Tokatli, Ayşegül]; Aydýn, Halil Ybrahim [corrected to Aydin, Halil Ibrahim].

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.

PMID:
17382128
DOI:
10.1016/j.jpeds.2007.01.036
[Indexed for MEDLINE]
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