Pediatría
Departamento
Centro de Biología Molecular Severo Ochoa
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Centro de Biología Molecular Severo Ochoa (3)
2019
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A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 3, pp. 407-413
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
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