Publikationen in Zusammenarbeit mit Forschern von Hospital Infantil Universitario Niño Jesus de Madrid (47)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

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. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

  3. Microbial and immune faecal determinants in infants hospitalized with COVID-19 reflect bifidobacterial dysbiosis and immature intestinal immunity

    European Journal of Pediatrics, Vol. 182, Núm. 10, pp. 4633-4645

2022

  1. A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

    Journal of Neurodevelopmental Disorders, Vol. 14, Núm. 1

  2. Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort

    Clinical Rheumatology, Vol. 41, Núm. 12, pp. 3759-3768

  3. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

2021

  1. Bone mineral density, body composition, and metabolic health of very low birth weight infants fed in hospital following current macronutrient recommendations during the first 3 years of life

    Nutrients, Vol. 13, Núm. 3, pp. 1-20

  2. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  3. 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

  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

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

2020

  1. Evaluation of the impact of the Spanish consensus document on the approach to osteoarticular infections in Spain through the Paediatrics Osteoarticular Infections Network (RIOPED)

    Anales de Pediatria, Vol. 93, Núm. 5, pp. 289-296

  2. Haploidentical transplantation in high-risk pediatric leukemia: A retrospective comparative analysis on behalf of the Spanish working Group for bone marrow transplantation in children (GETMON) and the Spanish Grupo for hematopoietic transplantation (GETH)

    American Journal of Hematology, Vol. 95, Núm. 1, pp. 28-37

  3. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  4. Predictors of response to exclusive enteral nutrition in newly diagnosed crohn’s disease in children: PRESENCE Study from SEGHNP

    Nutrients, Vol. 12, Núm. 4

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  2. Identification and characterization of new variants in FOXRED1 gene expands the clinical spectrum associated with mitochondrial complex I deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 8

  3. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  4. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  5. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562