Publicaciones en colaboración con investigadores/as de Hospital de Cruces (37)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

  3. The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis

    Metabolism: Clinical and Experimental, Vol. 158

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry

    Frontiers in Immunology, Vol. 13

  2. Pearls & Oy-sters: Challenges and Controversies in Wilson Disease

    Neurology, Vol. 99, Núm. 6, pp. 251-255

  3. Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease

    Frontiers in Endocrinology

  4. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión. Perspectiva desde la Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM)

    Revista espanola de salud publica, Vol. 95

  2. Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience

    Children, Vol. 8, Núm. 11

  3. MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

    Molecular Genetics and Metabolism Reports, Vol. 26

  4. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

  5. Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia

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

2020

  1. Brain circuit alterations and cognitive disability in late-onset cobalamin d disorder

    Journal of Clinical Medicine, Vol. 9, Núm. 4

  2. Canavan gaixotasuna (aspartoazilasaren gabezia): Euskal Herriko lehen kasuaren eta Europako mutazio berri baten aurkezpena

    Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 2, pp. 71-78

  3. 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

2019

  1. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

  2. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11

2018

  1. Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature

    Molecular Genetics and Metabolism, Vol. 124, Núm. 3, pp. 216-227

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