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

• Главные авторы: Junling Wang (Автор), Zhimei Liu (Автор), Manting Xu (Автор), Xiaodi Han (Автор), Changhong Ren (Автор), Xinying Yang (Автор), Chunhua Zhang (Автор), Fang Fang (Автор)
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• Опубликовано: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Предметы: article
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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...