Pedro Ruiz‐Sala

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 · 84 citations

Life Sciences, Genetics, Molecular Genetics +17

Triglyceride composition of ewe, cow, and goat milk fat

Pedro Ruiz‐Sala, M. T. G. Hierro, I. Martínez‐Castro et al. · Journal of the American Oil Chemists Society · 1996 · 73 citations

Life Sciences, Biochemistry, Dairy Science +15

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

Belén Pérez, Celia Medrano, María Jesús Ecay et al. · Journal of Inherited Metabolic Disease · 2012 · 56 citations

Life Sciences, Genetics, Molecular Genetics +14

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

Celia Pérez‐Cerdá, Judit García‐Villoria, Rob Ofman et al. · Pediatric Research · 2005 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

Belén Pérez, Luis González Gutiérrez‐Solana, Alfonso Verdú et al. · Epilepsia · 2013 · 48 citations · Full text

Medicine, Neurology, Pharmacology +16