Article
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
The Journal of pediatrics - 1 Apr 2007
Sivri Hatice Serap Kalkanoğlu, Genç Gülsüm Aydan, Tokatli Ayşegül, Tokatlý Ayşegül, Dursun Ali, Coşkun Turgay, Aydin Halil Ibrahim, Aydýn Halil Ybrahim, Sennaroğlu Levent, Belgin Erol, Jensen Kevin, Wolf Barry
Abstract excerpt
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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