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Molecular Genetics and Metabolism|July 2, 2013
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKULuis Aldámiz-Echevarría, María A Bueno, María L Couce, et al.Clinical Nutrition (Edinburgh, Scotland)|October 15, 2013
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patientsLuis Aldámiz-Echevarría, María A Bueno, María L Couce, et al.Molecular Genetics and Metabolism|April 18, 2015
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotypeLuis Aldámiz-Echevarría, María A Bueno, María L Couce, et al.Human Mutation|April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemiaDiana Gallego, Fátima Leal, Alejandra Gámez, et al.Journal of Human Genetics|April 29, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuriaLuis Aldámiz-Echevarría, Marta Llarena, María A Bueno, et al.Journal of Clinical Medicine|November 6, 2019
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized TreatmentIrene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, et al.European Journal of Clinical Nutrition|July 19, 2022
Vitamin C and folate status in hereditary fructose intoleranceAinara Cano, Carlos Alcalde, Amaya Belanger-Quintana, et al.Journal of Clinical Medicine|July 2, 2021
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose IntoleranceAinara Cano, Carlos Alcalde, Amaya Belanger-Quintana, et al.Journal of Clinical Medicine|September 9, 2022
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in SpainElena Martín-Hernández, Pilar Quijada-Fraile, Patricia Correcher, et al.Journal of Inherited Metabolic Disease|March 31, 2022
Postauthorization safety study of betaine anhydrousUlrike Mütze, Florian Gleich, Sven F Garbade, et al.Pageof 5