Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (33)

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. Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants

    iScience, Vol. 27, Núm. 9

  3. Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study

    Frontiers in Endocrinology, Vol. 15

  4. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. Characteristics of Pediatric Emergency Department Presentations of Anaphylaxis in Spain

    Pediatric Emergency Care, Vol. 39, Núm. 10, pp. 755-759

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

    European Thyroid Journal, Vol. 11, Núm. 5

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

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

  3. Vitamin C and folate status in hereditary fructose intolerance

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

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

    Advances in Therapy, Vol. 37, pp. 80-88

  3. Risk Factors for Severe Anaphylaxis in Children

    Journal of Pediatrics, Vol. 225, pp. 193-197.e5

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Management of anaphylaxis in Spain: Pediatric emergency care providers' knowledge

    European Journal of Emergency Medicine, Vol. 26, Núm. 3, pp. 163-167

  3. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

  2. The p.R56* mutation in PTHLH causes variable brachydactyly type E

    American Journal of Medical Genetics, Part A

2015

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

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

2014

  1. Accuracy of a sequential approach to identify young febrile infants at low risk for invasive bacterial infection

    Emergency Medicine Journal, Vol. 31, Núm. e1, pp. e19-e24