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 Santos, Berenice L. et al. Glycogen storage disease type I: clinical and laboratory profile . J. Pediatr. (Rio J.), Dec 2014, vol.90, no.6, p.572-579. ISSN 0021-7557

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 Herber, Silvani et al. Maple syrup urine disease in Brazil: a panorama of the last two decades . J. Pediatr. (Rio J.), June 2015, vol.91, no.3, p.292-298. ISSN 0021-7557

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 Giugliani, Luciana et al. Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase. J. Pediatr. (Rio J.), Jun 2011, vol.87, no.3, p.245-251. ISSN 0021-7557

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 Trevisan, Luciano Mangueira et al. Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil. Ciênc. saúde coletiva, May 2015, vol.20, no.5, p.1607-1616. ISSN 1413-8123

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