Publicacións en colaboración con investigadores/as de Duke University (6)

2021

  1. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135

  2. Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

    JAMA - Journal of the American Medical Association, Vol. 325, Núm. 8, pp. 753-764

  3. Respiratory Syncytial Virus Vaccination during Pregnancy and Effects in Infants

    Obstetrical and Gynecological Survey

2020

  1. Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study

    Neurology, Vol. 95, Núm. 21, pp. E2866-E2879

2015

  1. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

  2. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

    American Journal of Human Genetics, Vol. 97, Núm. 6, pp. 790-800