Publicaciones en colaboración con investigadores/as de Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias (11)

2024

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

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

2022

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

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

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

2014

  1. Interleukin-1 antagonism in type 1 diabetes of recent onset: Two multicenter, randomized double-masked, placebo-controlled trials

    Diabetes Technology and Therapeutics

2013

  1. Aspectos clínicos en dos casos de seudohipoparatiroidismo (ia y ib) y estudio molecular del locus GNAS

    Anales de Pediatria, Vol. 79, Núm. 5, pp. 319-324

  2. Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140

  3. Interleukin-1 antagonism in type 1 diabetes of recent onset: Two multicentre, randomised, double-blind, placebo-controlled trials

    The Lancet, Vol. 381, Núm. 9881, pp. 1905-1915

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2011

  1. Estudio OASIS: Manejo terapéutico de la acromegalia en un escenario de práctica clínica habitual. Evaluación de la eficacia de las diversas estrategias de tratamiento aplicadas

    Endocrinologia y Nutricion, Vol. 58, Núm. 9, pp. 478-486

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962