Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes or the effects of treatment, although 34 patients with HIBCH m...

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Detalhes bibliográficos
Publicado no:Front Pharmacol
Main Authors: Wang, Junling, Liu, Zhimei, Xu, Manting, Han, Xiaodi, Ren, Changhong, Yang, Xinying, Zhang, Chunhua, Fang, Fang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Pharmacology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7982470/
https://ncbi.nlm.nih.gov/pubmed/33762937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphar.2021.605803
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