Audiological and otologic manifestations of glutaric aciduria type I

BACKGROUND: Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study of comprehensive audiological and otologic e...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Chen, Yen-Chi, Huang, Chii-Yuan, Lee, Yen-Ting, Wu, Chia-Hung, Chang, Sheng-Kai, Cheng, Hsiu-Lien, Chang, Po-Hsiung, Niu, Dau-Ming, Cheng, Yen-Fu
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7706203/
https://ncbi.nlm.nih.gov/pubmed/33256818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01571-w
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