Publikationen in Zusammenarbeit mit Forschern von Hospital Infantil Universitario Niño Jesus de Madrid (64)

2023

  1. 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

  2. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

2022

  1. Affective symptom dimensions in early-onset psychosis over time: a principal component factor analysis of the Young Mania Rating Scale and the Hamilton Depression Rating Scale

    European Child and Adolescent Psychiatry, Vol. 31, Núm. 11, pp. 1715-1728

2021

  1. Fronto-parietal gray matter volume loss is associated with decreased working memory performance in adolescents with a first episode of psychosis

    Journal of Clinical Medicine, Vol. 10, Núm. 17

  2. Outcome of 1890 tracheostomies for critical COVID-19 patients: a national cohort study in Spain

    European Archives of Oto-Rhino-Laryngology, Vol. 278, Núm. 5, pp. 1605-1612

  3. Risk of contagion of SARS-CoV-2 among otorhinolaryngologists in Spain during the “Two waves”

    European Archives of Oto-Rhino-Laryngology, Vol. 278, Núm. 9, pp. 3571-3577

  4. Summary of Recommendations and Key Points of the Consensus of Spanish Scientific Societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the Use of Non-Invasive Ventilation and High-Flow Oxygen Therapy with Nasal Cannulas in Adult, Pediatric, and Neonatal Patients With Severe Acute Respiratory Failure

    Archivos de Bronconeumologia, Vol. 57, Núm. 6, pp. 415-427

  5. Summary of recommendations and key points of the consensus of Spanish scientific societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the use of non-invasive ventilation and high-flow oxygen therapy with nasal cannulas in adult, pediatric, and neonatal patients with severe acute respiratory failure

    Medicina Intensiva, Vol. 45, Núm. 5, pp. 298-312

2020

  1. Changes from COVID-19. A perspective from internal pediatric medicine

    Anales de Pediatria, Vol. 93, Núm. 5, pp. 343.e1-343.e8

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

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

  3. Distinct molecular profile of IRF4-rearranged large B-cell lymphoma

    Blood, Vol. 135, Núm. 4, pp. 274-286

  4. First national survey of the diagnosis of Helicobacter pylori infection in Clinical Microbiology Laboratories in Spain

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 38, Núm. 9, pp. 410-416

  5. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

  6. The value of the continuous genotyping of multi-drug resistant tuberculosis over 20 years in Spain

    Scientific Reports, Vol. 10, Núm. 1

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. Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12

2018

  1. Brachydactyly type C due to a nonsense mutation in the GDF5 gene

    Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109

  2. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

  3. Gray matter changes and cognitive predictors of 2-year follow-up abnormalities in early-onset first-episode psychosis

    European Child and Adolescent Psychiatry, Vol. 27, Núm. 1, pp. 113-126

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

    BMC Medical Genetics, Vol. 19, Núm. 1