Irene Bravo‐Alonso

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist et al. · Genetics in Medicine · 2016 · 97 citations · Full text

Metabolic Syndrome, Metabolic Disorder, Genetic Disorder +8

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

Alfonso Oyarzábal, Irene Bravo‐Alonso, María Sánchez‐Aragó et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2016 · 33 citations

Nutrition, Mitochondrial Response, Syndromic Autism +9

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

Irene Bravo‐Alonso, Rosa Navarrete, Ana Vega et al. · Journal of Clinical Medicine · 2019 · 18 citations · Full text

Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

Irene Bravo‐Alonso, Matías Morin, Laura Arribas‐Carreira et al. · Journal of Inherited Metabolic Disease · 2022 · 18 citations · Full text

Coenzyme A, Molecular Biology, Cardiovascular Genetics +18

Nonketotic hyperglycinemia: Functional assessment of missense variants in<i>GLDC</i>to understand phenotypes of the disease

Irene Bravo‐Alonso, Rosa Navarrete, Laura Arribas‐Carreira et al. · Human Mutation · 2017 · 17 citations

Engineering, Metabolic Disorder, Genetics +22