Associated Papers
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.
DiFalco CR et al.
Molecular Genetics and Metabolism, 2025
[Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review].
Lin X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Fang H et al.
Science Translational Medicine, 2022
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations.
Preston G et al.
Molecular Genetics and Metabolism, 0
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