title: Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
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.
authors: Hacettepe University, Department of Pediatrics, Nutrition & Metabolism Unit, Ankara, Turkey.
authors: Hatice Serap Kalkanoğlu
authors: HS
authors: Sivri
authors: Gülsüm Aydan
authors: GA
authors: Genç
authors: Ayşegül
authors: A
authors: Tokatli
authors: Ayşegül
authors: A
authors: Tokatlý
authors: Ali
authors: A
authors: Dursun
authors: Turgay
authors: T
authors: Coşkun
authors: Halil Ibrahim
authors: HI
authors: Aydin
authors: Halil Ybrahim
authors: HY
authors: Aydýn
authors: Levent
authors: L
authors: Sennaroğlu
authors: Erol
authors: E
authors: Belgin
authors: Kevin
authors: K
authors: Jensen
authors: Barry
authors: B
authors: Wolf
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D028921:Biotinidase Deficiency / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005838:Genotype; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype