Argitalpenak (58) Ikertzaileren baten partaidetza izan duten argitalpenak

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. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

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

  2. Limitación a la elevación de hombros como forma de presentación de mucopolisacaridosis: a propósito de un caso

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 124, pp. 100-100

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. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

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

    Frontiers in Endocrinology

  5. 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. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

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

    Molecular Genetics and Metabolism Reports, Vol. 26

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

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

  6. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

    Journal of Pediatrics, Vol. 239, pp. 231-234.e2

  7. 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