GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Hospital Universitari Germans Trias i Pujol
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitari Germans Trias i Pujol (11)
2022
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Lung Ultrasound Scores Progress Differently in Extreme and Very Preterm Infants after Birth: A Multicentre Prospective Study
Neonatology, Vol. 119, Núm. 5, pp. 558-566
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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
2021
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2018
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Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120
2015
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)
Journal of Inherited Metabolic Disease
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074
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
2010
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Recommendations and management of type i hereditary or hepatorenal tyrosinemia
Anales de Pediatria, Vol. 73, Núm. 5
2009
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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566
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Predischarge morbidities in extremely and very low-birth-weight infants in Spanish neonatal units
American Journal of Perinatology, Vol. 26, Núm. 5, pp. 335-343
2007
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Mortality for newborns of birthweight less than 1500 g in Spanish Neonatal Units (2002-2005)
American Journal of Perinatology, Vol. 24, Núm. 10, pp. 593-601