Pediatría
Servizo
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (22)
2024
-
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
2023
-
Adenovirus Infection in Hematopoietic and Solid Organ Paediatric Transplant Recipients: Treatment, Outcomes, and Use of Cidofovir
Microorganisms, Vol. 11, Núm. 7
-
Haploidentical vs. HLA-matched donor hematopoietic stem-cell transplantation for pediatric patients with acute lymphoblastic leukemia in second remission: A collaborative retrospective study of the Spanish Group for Bone Marrow Transplantation in Children (GETMON/GETH) and the Spanish Childhood Relapsed ALL Board (ReALLNet)
Frontiers in Pediatrics, Vol. 11
-
SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge
Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205
-
Treosulfan-Based Conditioning Regimen In Pediatric Hematopoietic Stem Cell Transplantation: A Retrospective Analysis on Behalf of the Spanish Group for Hematopoietic Transplantation and Cellular Therapy (GETH-TC)
Transplantation and Cellular Therapy, Vol. 29, Núm. 11, pp. 702.e1-702.e11
2022
-
Haploidentical hematopoietic stem cell transplantation in pediatric and adolescent patients: A study of the Spanish hematopoietic stem cell transplantation group (GETH)
Medicina Clinica, Vol. 159, Núm. 9, pp. 411-419
-
Onset of Nut Allergy in a Pediatric Cohort: Clinical and Molecular Patterns in the AFRUSEN Study
Journal of investigational allergology & clinical immunology, Vol. 32, Núm. 4, pp. 270-281
-
Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort
Clinical Rheumatology, Vol. 41, Núm. 12, pp. 3759-3768
2021
-
Haploidentical transplantation in pediatric non-malignant diseases: A retrospective analysis on behalf of the Spanish Group for Hematopoietic Transplantation (GETH)
European Journal of Haematology, Vol. 106, Núm. 2, pp. 196-204
-
Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children
Journal of Pediatrics, Vol. 236, pp. 211-218.e2
2019
-
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
-
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
-
Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11
-
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
2018
-
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
-
Ibero-American consensus on low- and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages
Nutrients, Vol. 10, Núm. 7
-
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
-
Paediatric research in Spain: Challenges and priorities. INVEST-AEP Platform
Anales de Pediatria, Vol. 89, Núm. 5, pp. 314.e1-314.e6
2017
-
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)
Journal of Inherited Metabolic Disease
-
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360