Associated Papers
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
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
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Maalej M et al.
Biochemical and Biophysical Research Communications, 2018
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Donti TR et al.
Molecular Genetics and Metabolism, 2016
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.
Sakamoto O et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Van Hove JL et al.
Pediatric Research, 2010
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