GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Hospital Universitario Pío del Río Hortega
Valladolid, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Pío del Río Hortega (25)
2023
2022
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Risk factors and bronchopulmonary dysplasia severity: data from the Spanish Bronchopulmonary Dysplasia Research Network
European Journal of Pediatrics, Vol. 181, Núm. 2, pp. 789-799
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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
2019
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
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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
2014
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Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients
Clinical Nutrition, Vol. 33, Núm. 4, pp. 702-717
2013
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Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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Guía de prá ctica clínica para el tratamiento del síndrome de Hunter
Medicina Clinica, Vol. 141, Núm. 10
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Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338
2012
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Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
Molecular Genetics and Metabolism, Vol. 106, Núm. 2, pp. 196-201