Clinical analysis
Service
Centro de Biología Molecular Severo Ochoa
Madrid, EspañaPublications in collaboration with researchers from Centro de Biología Molecular Severo Ochoa (2)
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