Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

Primary coenzyme Q10 (CoQ10) deficiency refers to a group of mitochondrial cytopathies caused by genetic defects in CoQ10 biosynthesis. Primary coenzyme Q10 deficiency-6 (COQ10D6) is an autosomal recessive disorder attributable to biallelic COQ6 variants; the cardinal phenotypes are steroid-resistan...

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Detalles Bibliográficos
Autores principales: Nam, Dong Woo, Park, Sang Soo, Lee, So Min, Suh, Myung-Whan, Park, Moo Kyun, Song, Jae-Jin, Choi, Byung Yoon, Lee, Jun Ho, Oh, Seung Ha, Moon, Kyung Chul, Ahn, Yo Han, Kang, Hee Gyung, Cheong, Hae Il, Kim, Ji Hyun, Lee, Sang-Yeon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482153/
https://www.ncbi.nlm.nih.gov/pubmed/36124066
http://dx.doi.org/10.1155/2022/5250254

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