Pediatría
Departamento
Instituto de Salud Carlos III
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Instituto de Salud Carlos III (49)
2023
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Characteristics and management of patients with SARS-CoV2 infection admitted to pediatric intensive care units: Data analysis of the Spanish national multicenter registry
Pediatric Pulmonology, Vol. 58, Núm. 10, pp. 2916-2929
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Decoding the molecular heterogeneity of pediatric monomorphic post–solid organ transplant lymphoproliferative disorders
Blood, Vol. 142, Núm. 5, pp. 434-445
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Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing
International Journal of Molecular Sciences, Vol. 24, Núm. 22
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Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells
Frontiers in Cell and Developmental Biology, Vol. 11
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Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort
Neurologia, Vol. 38, Núm. 2, pp. 93-105
2022
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Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP)
Clinical and Translational Oncology, Vol. 24, Núm. 5, pp. 809-815
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
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Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells
Gut, Vol. 71, Núm. 1, pp. 68-77
2021
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414
2020
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Scientific Reports, Vol. 10, Núm. 1
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Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: Results of the cohort di@bet.es study
BMJ Open Diabetes Research and Care, Vol. 8, Núm. 1
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Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study
Scientific Reports, Vol. 10, Núm. 1
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Update of the Spanish registry of haemoglobinopathies in children and adults
Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103
2019
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Controversies in growth hormone treatment in patients with Prader-Willi syndrome
Acta Pediatrica Espanola, Vol. 77, Núm. 1-2, pp. 6-11
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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303
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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
Frontiers in Immunology, Vol. 10
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Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study
Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2017
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360