Jaime Dalmau

Prebiotic effect during the first year of life in healthy infants fed formula containing GOS as the only prebiotic: a multicentre, randomised, double-blind and placebo-controlled trial

Carlos Sierra, María-José Bernal, Javier Blasco‐Alonso et al. · European Journal of Nutrition · 2014 · 157 citations · Full text

Life Sciences, Nutrition, Pediatrics +17

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

Francesca Bertola, Mirella Filocamo, Giorgio Casati et al. · Human Mutation · 2011 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

Luis Aldámiz‐Echevarría, Marta Llarena, María A. Bueno et al. · Journal of Human Genetics · 2016 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Vitamin and mineral status in patients with hyperphenylalaninemia

Vanesa Crujeiras Martínez, Luis Aldámiz‐Echevarría, Jaime Dalmau et al. · Molecular Genetics and Metabolism · 2015 · 59 citations · Full text

Public Health, Endocrinology, Nutritional Sciences +12

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