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Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine
Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine R. E. Simoni1, C. P. Honório de Oliveira1, M. J. Braga1, C. R. Gayer de Menezes1, J. C. Llerena Jr2,Expand
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Alcaptonuria in a Brazilian baby
J.B.L. is a healthy girl, the first child of non-consanguineous parents, who did not want this pregnancy; a forced abortion was unsuccessful. Remaining gestation and delivery were normal. The infantExpand
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A Survey on Inborn Errors of Metabolism in 323 Neonates from the State of Rio de Janeiro, Brazil
Inborn errors of metabolism (IEM) are a relevant cause of morbidity and death among children, and neonates in particular. However, little is known about the prevalence of these disorders in BrazilianExpand