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JIMD Reports|January 24, 2015
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literatureIsidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, et al.
Nutrients|January 11, 2024
Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic ConditionDomingo González-Lamuño, Francisco Jesús Arrieta-Blanco, Elena Dios Fuentes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 26, 2016
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencingAna I Vega, Celia Medrano, Rosa Navarrete, et al.
Journal of Experimental Child Psychology|May 19, 2019
The role of attentional biases to appetitive stimuli in childhood overweightLuis M Rojo-Bofill, Alejandro Ortiz-Roldán, Alba Moreno-Giménez, et al.
Orphanet Journal of Rare Diseases|June 28, 2018
Carbohydrate status in patients with phenylketonuriaMaría L Couce, Paula Sánchez-Pintos, Isidro Vitoria, et al.
International Journal of Molecular Sciences|December 31, 2020
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVAVíctor J Álvarez, Susana B Bravo, Maria Pilar Chantada-Vazquez, et al.
Clinical Nutrition (Edinburgh, Scotland)|March 6, 2019
Non-alcoholic fatty liver in hereditary fructose intoleranceLuis Aldámiz-Echevarría, Javier de Las Heras, María Luz Couce, et al.
Anales De Pediatria|June 21, 2022
Cross-cultural adaptation to Spanish and content validity of three nutritional risk scalesEvelin Balaguer López, Pablo García-Molina, Francisco Núñez, et al.
Journal of Human Genetics|December 2, 2016
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemiaMaría L Couce, Luís Aldamiz-Echevarría, María A Bueno, et al.
Medicine|October 3, 2019
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in SpainMaría Luz Couce, Paula Sánchez-Pintos, Luís Aldámiz-Echevarría, et al.
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