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Articles • J. Braz. Chem. Soc. 25 (10) • Oct 2014 • https://doi.org/10.5935/0103-5053.20140203   copy

Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil

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Orphan neglected diseases, such as inborn errors of metabolism (IEM), affect a small percentage of the population. In Brazil, they need more attention from the public health system. Investigation of 8,000 patients in a reference analytical laboratory in Rio de Janeiro revealed 487 IEM (6.1%). The number of diagnosed cases could be larger if more specialized laboratories were available.

inborn errors of metabolism; chemical analytical techniques; diagnosis; public policy

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