doi: 10.1016/j.jpeds.2007.01.036.
Hearing loss in biotinidase deficiency: genotype-phenotype correlation
Affiliations
- PMID: 17382128
- DOI: 10.1016/j.jpeds.2007.01.036
Item in Clipboard
Hearing loss in biotinidase deficiency: genotype-phenotype correlation
J Pediatr.
2007 Apr.
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.
Similar articles
-
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.Hum Mutat. 2005 Apr;25(4):413. doi: 10.1002/humu.9329. Hum Mutat. 2005. PMID: 15776412
-
Audiologic findings in children with biotinidase deficiency in Turkey.Int J Pediatr Otorhinolaryngol. 2007 Feb;71(2):333-9. doi: 10.1016/j.ijporl.2006.11.001. Epub 2006 Dec 11. Int J Pediatr Otorhinolaryngol. 2007. PMID: 17161472
-
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002 Feb;140(2):242-6. doi: 10.1067/mpd.2002.121938. J Pediatr. 2002. PMID: 11865279
-
Clinical issues and frequent questions about biotinidase deficiency.Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003. Epub 2010 Jan 11. Mol Genet Metab. 2010. PMID: 20129807 Review.
-
An overview of hereditary hearing loss.ORL J Otorhinolaryngol Relat Spec. 2006;68(2):57-63. doi: 10.1159/000091090. Epub 2006 Jan 20. ORL J Otorhinolaryngol Relat Spec. 2006. PMID: 16428895 Review.
Cited by
-
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.J Pers Med. 2020 Jan 21;10(1):4. doi: 10.3390/jpm10010004. J Pers Med. 2020. PMID: 31973013 Free PMC article.
-
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.J Clin Diagn Res. 2015 Dec;9(12):SC08-10. doi: 10.7860/JCDR/2015/12958.6941. Epub 2015 Dec 1. J Clin Diagn Res. 2015. PMID: 26816961 Free PMC article.
-
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.Eur J Pediatr. 2015 Aug;174(8):1077-84. doi: 10.1007/s00431-015-2509-5. Epub 2015 Mar 11. Eur J Pediatr. 2015. PMID: 25754625
-
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.J Pediatr Genet. 2022 Nov 1;12(1):1-15. doi: 10.1055/s-0042-1757887. eCollection 2023 Mar. J Pediatr Genet. 2022. PMID: 36684547 Free PMC article. Review.
-
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genet Med. 2017 Oct;19(10). doi: 10.1038/gim.2017.84. Epub 2017 Jul 5. Genet Med. 2017. PMID: 28682309
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
