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

Journal of the Brazilian Chemical Society

Fernanda B. Scalco¹  Maria Lúcia C. Oliveira²  Ruth E. Simonia¹  Francisco R. Aquino Neto¹ 

[1],Universidade Federal do Rio de Janeiro Departamento de Bioquímica Laboratório de Apoio ao Desenvolvimento TecnológicoRio de Janeiro RJ ,Brazil

关键词: inborn errors of metabolism;    chemical analytical techniques;    diagnosis;    public policy;   

DOI  :  10.5935/0103-5053.20140203

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License