Cochlear Implantation in Biotinidase Enzyme Deficiency-Reference-Cited by-同舟云学术

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Cochlear Implantation in Biotinidase Enzyme Deficiency

Published:2020-08-31 Issue: Volume: Page:
ISSN:2231-3796
Container-title:Indian Journal of Otolaryngology and Head & Neck Surgery
language:en
Short-container-title:Indian J Otolaryngol Head Neck Surg

Author:

Castellino Ashish^ORCID,Kurkure Rahul,Rayamajhi Pabina,Kameswaran Mohan

Publisher

Springer Science and Business Media LLC

Subject

Otorhinolaryngology,Surgery

Link

https://link.springer.com/content/pdf/10.1007/s12070-020-02105-3.pdf

Reference22 articles.

1. Lalwani AK, Castelein CM (1999) Cracking the auditory genetic code: nonsyndromic hereditary hearing impairment. Am J Otol 20:115–132

2. Wolf B (1991) Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 14(6):923–927. https://doi.org/10.1007/BF01800475

3. Cowan TM, Blitzer MG, Wolf B (2010) Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med. https://doi.org/10.1097/GIM.0b013e3181e4cc0f

4. Wolf B, Grier RE, Secor McVoy JR, Heard GS (1985) Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis 8(1 Supplement):53–58. https://doi.org/10.1007/BF01800660

5. Elrefai S, Wolf B (2014) Disorders of biotin metabolism. In: Rosenberg’s molecular and genetic basis of neurological and psychiatric disease: Fifth Edition. https://doi.org/10.1016/b978-0-12-410529-4.00048-6

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