Pediatría
Departamento
Domingo
González-Lamuño Leguina
Publicaciones en las que colabora con Domingo González-Lamuño Leguina (16)
2021
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Treatment adherence in tyrosinemia type 1 patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17
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Implementation of an affordable method for MPS diagnosis from urine screening to enzymatic confirmation: Results of a pilot study in Morocco
Clinical Laboratory, Vol. 66, Núm. 3, pp. 391-399
2018
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Dislipemias genéticas
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 135-154
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Manual clínico del cribado metabólico
Servicio de Publicaciones e Intercambio Científico
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Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening
Medicine (United States), Vol. 97, Núm. 32
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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Manual clínico del cribado metabólico
Servicio de Publicaciones e Intercambio Científico
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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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Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain
Journal of Human Genetics, Vol. 58, Núm. 5, pp. 279-284
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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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New evidence for assessing tetrahydrobiopterin (BH4) responsiveness
Metabolism: Clinical and Experimental, Vol. 61, Núm. 12, pp. 1809-1816
2007
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Essential fatty acid deficiency profile in patients with nephrotic-range proteinuria
Pediatric Nephrology, Vol. 22, Núm. 4, pp. 533-540