2016

1. Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome

   Brain, Vol. 139, Núm. 1, pp. 31-38

2. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content

   European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372

3. The CoQH2/CoQ Ratio Serves as a Sensor of Respiratory Chain Efficiency

   Cell Reports, Vol. 15, Núm. 1, pp. 197-209