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 · 82 citations

Oral Bcaa Supplementation, Brain Development, Neurological Disorder +27

Triglyceride composition of ewe, cow, and goat milk fat

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

Lipid Analysis, Nutrition, Triglyceride Composition +19

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

B. Merinero, Belén Pérez, Celia Pérez‐Cerdá et al. · Journal of Inherited Metabolic Disease · 2007 · 57 citations

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

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 · 54 citations · Full text

Mitochondrial Disease, Mitochondrial Biogenesis, Mitochondrial Function +12