Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
Hospital Universitario Pío del Río Hortega
Valladolid, EspañaPublications in collaboration with researchers from Hospital Universitario Pío del Río Hortega (33)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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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
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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
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Nutrition in congenital heart disease: Consensus document
Anales de Pediatria, Vol. 98, Núm. 5, pp. 373-383
2022
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A genome-wide association study of survival in patients with sepsis
Critical Care, Vol. 26, Núm. 1
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
2020
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
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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
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics
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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
2018
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Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain
Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
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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
2016
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Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria
Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744
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Vertically transmitted cytomegalovirus infection in newborn preterm infants
Journal of Perinatal Medicine, Vol. 44, Núm. 5, pp. 485-490
2015
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6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype
Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16
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Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]
Molecular Genetics and Metabolism
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Phenylketonuria's impact on physical growth in a Spanish cohort
Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48