Publications in collaboration with researchers from Hospital Universitario 12 de Octubre (28)

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

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

2013

  1. Changes in acromegaly treatment over four decades in Spain: Analysis of the Spanish Acromegaly Registry (REA)

    Pituitary, Vol. 16, Núm. 1, pp. 115-121

  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. Increasing incidence of pediatric inflammatory bowel disease in Spain (1996-2009): The SPIRIT registry

    Inflammatory Bowel Diseases, Vol. 19, Núm. 1, pp. 73-80

2012

  1. Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review

    Clinical Dysmorphology, Vol. 21, Núm. 3, pp. 172-176

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

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