David Gil

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 · 155 citations · Full text

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 · 69 citations · Full text

Urology, Molecular Epidemiology, Renal Pathology +6

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Vassili Valayannopoulos, Julien Baruteau, María Bueno Delgado et al. · Orphanet Journal of Rare Diseases · 2016 · 45 citations · Full text

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

Luis Aldámiz‐Echevarría, María A. Bueno, María L. Couce et al. · Clinical Nutrition · 2013 · 43 citations · Full text

Obesity, Nutrition, Metabolic Syndrome +9

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Luc Régal, Emma Mårtensson, Isabelle Maystadt et al. · Genetics in Medicine · 2017 · 41 citations · Full text

Functional Blood Assay, Bone Marrow Failure, Laboratory Hematology +8