Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts

(2011) David Cotán et al.   FASEB JOURNAL

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

(2011) Konstantina Fragaki et al.   MITOCHONDRION

Epileptic phenotypes in children with respiratory chain disorders

(2010) Sandra El Sabbagh et al.   EPILEPSIA

Rapid profiling of bovine and human milk gangliosides by matrix-assisted laser desorption/ionization Fourier transform ion cyclotron resonance mass spectrometry

(2010) Hyeyoung Lee et al.   INTERNATIONAL JOURNAL OF MASS SPECTROMETRY

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

(2010) C. Rouzier et al.   JOURNAL OF MEDICAL GENETICS

Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies

(2008) D. Khurana et al.   NEUROPEDIATRICS