Associated Papers
Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis.
Elabed S et al.
Mitochondrion, 2025
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.
Lin L et al.
Prenatal Diagnosis, 2024
Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
Lancaster MS et al.
International Journal of Molecular Sciences, 2023
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S et al.
Molecular Biology Reports, 2020
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
The clinical and genetic characteristics in children with mitochondrial disease in China.
Fang F et al.
Science China. Life Sciences, 2017
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
Liu YP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
Liu Y et al.
Brain & Development, 2016
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