Publicaciones en colaboración con investigadores/as de Hospital Universitario Reina Sofia (17)

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. Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study

    European Journal of Endocrinology, Vol. 190, Núm. 6, pp. 421-433

2023

  1. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  2. Nutrition recommendations for patients with pseudohypoparathyroidism

    Anales de Pediatria

  3. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

2022

  1. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study

    European Thyroid Journal, Vol. 11, Núm. 5

2021

  1. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  2. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

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

2020

  1. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

    PLoS ONE, Vol. 15, Núm. 9 September

2019

  1. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086

2017

  1. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385

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

  3. Results from a national survey on the management of primary hyperparathyroidism

    Journal of Endocrinological Investigation, Vol. 35, Núm. 11, pp. 957-963

2010

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

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

2006

  1. Validity and clinical applicability of the acromegaly quality of life questionnaire, AcroQoL: A 6-month prospective study

    European Journal of Endocrinology, Vol. 155, Núm. 2, pp. 269-277