Esperanza Castejón

Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Àngels García‐Cazorla, Alfonso Oyarzábal, Joana Fort et al. · Human Mutation · 2014 · 82 citations

Oral Bcaa Supplementation, Brain Development, Neurological Disorder +27

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Inês Vaz Matos, Esperanza Castejón, Silvia Meavilla et al. · Molecular Genetics and Metabolism · 2013 · 35 citations

Translational Medicine, Hydroxocobalamin Dose Escalation, Cobalamin C Deficiency +2

Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet

Adriana Ulate-Campos, Carmen Fons, Rafael Artuch et al. · Pediatric Neurology · 2013 · 31 citations · Full text

Plasma inducible degrader of the LDLR, soluble low-density lipoprotein receptor, and proprotein convertase subtilisin/kexin type 9 levels as potential biomarkers of familial hypercholesterolemia in children

Josefa Girona, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe et al. · Journal of clinical lipidology · 2017 · 22 citations

Familial Hypercholesterolemia, Plasma Inducible Degrader, Cardiovascular Disease +9

Gastrointestinal Involvement in Pediatric Polyarteritis Nodosa

Javier Martín de Carpi, Esperanza Castejón, Lluisa Masiques et al. · Journal of Pediatric Gastroenterology and Nutrition · 2007 · 19 citations

Rheumatology, Vasculitis, Autoimmune Disease +14