GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Centro de Biología Molecular Severo Ochoa
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Biología Molecular Severo Ochoa (4)
2017
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Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease
Human Mutation, Vol. 38, Núm. 6, pp. 678-691
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 BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain
Gene, Vol. 521, Núm. 1, pp. 100-104
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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