Publicaciones en las que colabora con Domingo González-Lamuño Leguina (11)

2021

  1. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  2. Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia

    Journal of Clinical Medicine, Vol. 10, Núm. 16

2020

  1. Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17

  2. Implementation of an affordable method for MPS diagnosis from urine screening to enzymatic confirmation: Results of a pilot study in Morocco

    Clinical Laboratory, Vol. 66, Núm. 3, pp. 391-399

2018

  1. Dislipemias genéticas

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 135-154

2015

  1. 6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16

  2. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

2014

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

    Clinical Nutrition, Vol. 33, Núm. 4, pp. 702-717

2013

  1. Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU

    Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338

2012

  1. New evidence for assessing tetrahydrobiopterin (BH4) responsiveness

    Metabolism: Clinical and Experimental, Vol. 61, Núm. 12, pp. 1809-1816

2007

  1. Essential fatty acid deficiency profile in patients with nephrotic-range proteinuria

    Pediatric Nephrology, Vol. 22, Núm. 4, pp. 533-540