MA Vilaseca

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

New approach to osteopenia in phenylketonuric patients

Belén Pérez‐Dueñas, FJ Cambra, MA Vilaseca et al. · Acta Paediatrica · 2002 · 79 citations

Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine‐restricted diet?

Rosa Gassió, Josep M. Campistol, MA Vilaseca et al. · Acta Paediatrica · 2003 · 68 citations

Plasma amino acids in anorexia nervosa

D Moyano, MA Vilaseca, Rafael Artuch et al. · European Journal of Clinical Nutrition · 1998 · 66 citations

Nutrition, Eating Disorders, Psychiatry +9

Mutational study in the<i>PDHA1</i>gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Ester Quintana, Laura Gort, C. Busquets et al. · Clinical Genetics · 2009 · 36 citations