Mercedes Casado

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

Juan Darío Ortigoza‐Escobar, Marta Molero-Luís, Ángela Arias et al. · Brain · 2015 · 68 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography–tandem mass spectrometry

Mercedes Casado, Cristina Sierra, Marta Batllori et al. · Metabolomics · 2018 · 47 citations

Life Sciences, Biochemistry, Mass Spectrometric Analysis +15

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

Jaume Campistol, María Díez‐Juan, Laura Callejón et al. · Developmental Medicine & Child Neurology · 2016 · 44 citations · Full text

Medicine, Pediatrics, Psychiatry +17

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

Luis Vázquez-Fonseca, Ignacio Navas‐Enamorado, Carlos Santos‐Ocaña et al. · Journal of Clinical Medicine · 2019 · 44 citations · Full text

Life Sciences, Biochemistry, Physiology +17

Annexin A6 Is Critical to Maintain Glucose Homeostasis and Survival During Liver Regeneration in Mice

Anna Álvarez-Guaita, Patricia Blanco‐Muñoz, Elsa Meneses‐Salas et al. · Hepatology · 2020 · 42 citations

Life Sciences, Biochemistry, Molecular Biology +17