GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Nuestra Señora de Candelaria (11)
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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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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
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
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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Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338
2010
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Efectividad de palivizumab en la prevención de la infección por el virus respiratorio sincitial en prematuros de 321 a 35° semanas de gestación en España
Acta Pediatrica Espanola, Vol. 68, Núm. 1, pp. 13-18
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